LOVD - Variant listings for BEST1

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The variants below are all in the BEST1 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than BEST1, are reported as the gene symbol with the number of reported variants between parenthesis.
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-/- 01 c.-221C>T - p.0? 0.416 Marquardt;0.437 Kraemer - Marquardt 1998;Kraemer 2000 DNA SEQ, SSCA r.(?) multiple normal Marquardt 1998;Kraemer 2000 - - - - - - - - - 1 - -
-?/-? 01 c.-206T>C - p.=? - - dbSNP DNA SEQ r.(?) dbSNPrs1800952 ? dbSNP - - - - - - - - - 1 - -
-?/-? 01 c.-64A>G - p.=? - - dbSNP DNA SEQ - dbSNPrs62644557 ? dbSNP - - - - - - - - - 1 - -
-?/-? 01 c.-63T>C - p.=? - - dbSNP DNA SEQ r.(?) dbSNPrs62635775 ? dbSNP - - - - - - - - - 1 - -
-?/-? 01 c.-61A>G - p.=? - - dbSNP DNA SEQ r.(?) dbSNPrs62635776 ? dbSNP - - - - - - - - - 1 - -
-?/-? 01 c.-60T>C - p.=? - - dbSNP DNA SEQ r.(?) dbSNPrs62635777 ? dbSNP - - - - - - - - - 1 - -
-?/-? 01 c.-42C>T - p.=? - - dbSNP DNA SEQ r.(?) dbSNPrs62635780 ? dbSNP - - - - - - - - - 1 - -
-?/-? 01 c.-28C>G - p.=? - - dbSNP DNA SEQ r.(?) dbSNPrs62637039 ? dbSNP - - - - - - - - - 1 - -
-?/-? 01 c.-15G>A - p.=? - - dbSNP DNA SEQ r.(?) dbSNPrs62637042 ? dbSNP - - - - - - - - - 1 - -
-?/-? 01 c.-8G>C - p.=? - - dbSNP DNA SEQ r.(?) dbSNPrs62637043 ? dbSNP - - - - - - - - - 1 - -
-?/-? 01 c.-2C>T - p.=? - - dbSNP DNA SEQ r.(?) dbSNPrs62639345 ? dbSNP - - - - - - - - - 1 - -
-/- 01 ? c.-118C>T p.0? 0.417 Allikmets Since the authors used another reference cDNA sequence, position is probably not -118. Allikmets 1999 DNA SEQ, SSCP r.(?) multiple normal Allikmets 1999 - - - - - - - - - 1 - -
-?/-? 02 c.1A>G - p.Met1? - - dbSNP DNA SEQ r.(?) dbSNPrs62637045 ? dbSNP - - - - - - - - - 1 - -
+/? 02 c.5C>A - p.Thr2Asn - No studies were done to confirm that this variant is absent in healthy individuals. Wong 2010 DNA SEQ r.(?) FamE I-1 VMD Wong 2010, Germany:Regensburg - Male 76 - Chinese Dominant 1 family, 2 patients - - 1 DNA SEQ
?/? 02 c.8T>C - p.Ile3Thr - - Boon 2009 DNA SEQ r.(?) K-IV.1 VMD Boon 2009 - - - - - - - - - 1 - -
?/? 02 c.10A>G - p.Thr4Ala - - Querques et al. 2009 DNA SEQ - CT07 CT IV VMD Querques et al. 2009 - Female 27 20 African (Maghreb) - 1 family / 4 patients - - - DNA SEQ
?/? 02 c.10A>G - p.Thr4Ala - - Querques et al. 2009 DNA SEQ - CT08 CT IV VMD Querques et al. 2009 - Female 23 16 African (Maghreb) - 1 family / 4 patients - - - DNA SEQ
-?/? 02 c.15C>A - p.Tyr5X - No mutation carriers found in 100 control individuals. The father of the patient, who carryies only this mutation, has normal vision. Lacassagne DNA PCR, SEQ - PMCID: PMC3032275 VMD Lacassagne, France, Metropolitan:Paris - Male - - - - - - Normal vision 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Kraemer 2000;dbSNP DNA SEQ r.(?) 1 AVMD Kraemer 2000 - - - - Caucasian (Germany) - - - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Boon 2007;dbSNP DNA SEQ r.(?) 3 VMD Boon 2007 - - - - - - - - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Boon 2007;dbSNP DNA SEQ r.(?) 9 VMD Boon 2007 - - - - - - - - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Boon 2009;dbSNP DNA SEQ r.(?) A-II.2 VMD Boon 2009 - - - - Caucasian (Netherlands) - 2 patients in family - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Boon 2009;dbSNP DNA SEQ r.(?) B-III.1 VMD Boon 2009 - - - - - - - - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Boon 2009;dbSNP DNA SEQ r.(?) C-II.1 VMD Boon 2009 - - - - Caucasian (Netherlands) - 2 patients in family - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Boon 2009;dbSNP DNA SEQ r.(?) D-III.4 VMD Boon 2009 - - - - - - - - - 1 - -
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?/? 02 c.16A>C - p.Thr6Pro - - Boon 2009;dbSNP DNA SEQ r.(?) D-IV.3 VMD Boon 2009 - - - - - - - - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Boon 2009;dbSNP DNA SEQ r.(?) E-III.1 VMD Boon 2009 - - - - - - - - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Boon 2009;dbSNP DNA SEQ r.(?) F-III.5 VMD Boon 2009 - - - - - - - - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Bakall 1999;dbSNP DNA SEQ r.(?) Nx11 VMD Bakall 1999 - - - - Caucasian (Netherlands) - - - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Bakall 1999;dbSNP DNA SEQ r.(?) Nx2 VMD Bakall 1999 - - - - Caucasian (Netherlands) - - - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Petrukhin 1998;dbSNP DNA SEQ r.(?) Nx6 VMD Petrukhin 1998 - - - - - - - - - 1 - -
?/? 02 c.16A>C - p.Thr6Pro - - Petrukhin 1998;dbSNP DNA SEQ r.(?) Nx8 VMD Petrukhin 1998 - - - - - - - - - 1 - -
?/? 02 c.16A>G - p.Thr6Ala - - Apushkin 2006 DNA SEQ r.(?) x VMD Apushkin 2006 - - - - Caucasian - segregates in family - - 1 - -
?/? 02 c.17C>G - p.Thr6Arg - - Lotery 2000 DNA SEQ r.(?) 3 VMD Lotery 2000 - - - - - - - - - 1 - -
-?/-? 02 c.21C>T - p.=? - - dbSNP DNA SEQ r.(?) dbSNPrs62639346 ? dbSNP - - - - - - - - - 1 - -
?/? 02 c.25G>A - p.Val9Met - - Kraemer 2000 DNA SEQ r.(?) B-20 VMD Kraemer 2000 - - - - Caucasian (Germany) - - - - 1 - -
?/? 02 c.25G>A - p.Val9Met - - Marquardt 1998;dbSNP DNA SEQ r.(?) Pat14 VMD Marquardt 1998 - - - - Caucasian (Germany) - - - - 1 - -
?/? 02 c.25G>A - p.Val9Met - - Cohn 2011 DNA SEQ - FAM-26 VMD Cohn 2011, Germany:Regensburg - - - - - - - - - - - -
?/? 02 c.26?>C c.26A>C p.Val9Ala - c.26 is a T. Position is probably false. Familial case Petrukhin 1998 DNA SEQ r.(?) SL3 VMD? Petrukhin 1998 - - - - - - - - - 1 - -
?/? 02 c.26T>A - p.Val9Glu - - Maia-Lopes et al. 2008 DNA SEQ r.(?) HM070108 VMD Maia-Lopes et al. 2008 - - - - - - - - - 1 - -
?/? 02 c.26T>C - p.Val9Ala - - Querques et al. 2009 DNA SEQ - CT12 CT VI VMD Querques et al. 2009 - Male 44 7 African (Maghreb) - 1 family / 4 patients - - - DNA SEQ
?/? 02 c.26T>C - p.Val9Ala - - Querques et al. 2009 DNA SEQ - CT13 CT VI VMD Querques et al. 2009 - Female 12 12 African (Maghreb) - 1 family / 4 patients - - - DNA SEQ
?/? 02 c.26T>C c.130T>C p.Val9Ala p.Val9Ala - - Ponjavic et al. 1999 DNA SEQ - SV III:1 VMD Ponjavic et al. 1999 - Female 42 - Caucasian (Sweden) - 1 family / 3 patients - - - DNA SEQ
?/? 02 c.26T>C c.130T>C p.Val9Ala p.Val9Ala - - Ponjavic et al. 1999 DNA SEQ - SV IV:1 VMD Ponjavic et al. 1999 - Female 19 - Caucasian (Sweden) - 1 family / 3 patients - - - DNA SEQ
?/? 02 c.28G>A - p.Ala10Thr - - Kraemer 2000 DNA SEQ r.(?) 6 VMD Kraemer 2000 - - - - Caucasian (United Kingdom) - segregates in family - - 1 - -
?/? 02 c.28G>A - p.Ala10Thr - - Marquardt 1998 DNA SEQ r.(?) 6 VMD Marquardt 1998 - - - - Caucasian (United Kingdom) - segregates in family - - 1 - -
?/? 02 c.29C>T - p.Ala10Val - - Bakall 1999 DNA SEQ r.(?) Nx3 VMD Bakall 1999 - - - - Caucasian (Netherlands) - segregates in family - - 1 - -
?/? 02 c.32A>T - p.Asn11Ile - - Kraemer 2003 DNA SEQ r.(?) 8 VMD Kraemer 2003 - - - - Caucasian (Germany) - segregates in family - - 1 - -
?/? 02 c.38G>A c.142G>A p.Arg13His - - Caldwell 1999 DNA SEQ r.(?) 9 VMD Caldwell et al. 1999 - - - - - - segregates in family - - 1 - -
?/? 02 c.44G>A - p.Gly15Asp - - Querques et al. 2009 DNA SEQ - FG09 FG IV VMD Querques et al. 2009 Father carries mutation but has normal VA and normal explorations. Female 3 2 Caucasian (Italy) - 1 family / 1 patient / 1 asymptomatic carrier - - - DNA SEQ
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?/? 02 c.44G>A - p.Gly15Asp - - Querques et al. 2009 DNA SEQ - FG10 FG IV normal Querques et al. 2009 Asymptomatic carrier Male 30 - Caucasian (Italy) - 1 family / 1 patient / 1 asymptomatic carrier - - - DNA SEQ
?/? 02 c.47C>A - p.Ser16Tyr - No mutation carriers found in 185 control individuals. Boon 2007 DNA SEQ r.(?) 6 VMD Boon 2007 - - - - - - - - - 1 - -
?/? 02 c.47C>T - p.Ser16Phe - - Marchant 2001 DNA SEQ r.(?) 10 VMD Marchant 2001 - - - - - - segregates in family - - 1 - -
?/? 02 c.50T>G - p.Phe17Cys - - Marchant 2001 DNA SEQ r.(?) 11 VMD Marchant 2001 - - - - - - - - - 1 - -
?/? 02 c.50T>G - p.Phe17Cys - - Lotery 2000 DNA SEQ r.(?) 11 VMD Lotery 2000 - - - - - - - - - 1 - -
?/? 02 c.58C>G c.58C>G p.Leu20Val p.Leu20Val - - Bitner 2012 DNA SEQ - 76976 (VMD20110) VMD Bitner 2012 - Female 50 36 Caucasian (Danish) - 1 family/2 patients - - - DNA SEQ
?/? 02 c.61C>G
    + c.626G>A
- p.Leu21Val - - Kraemer 2000 DNA SEQ r.(?) 12 B-29 VMD Kraemer 2000 - - - - Caucasian (United Kingdom) - segregates in family - - 1 - -
?/? 02 c.61C>G
    + c.626G>A
- p.Leu21Val - - Kraemer 2000 DNA SEQ r.(?) 12 B-30 VMD Kraemer 2000 - - - - Canada - segregates in family - - 1 - -
?/? 02 c.72G>T - p.Trp24Cys - - Lotery 2000 DNA SEQ r.(?) 13 VMD Lotery 2000 - - - - Caucasian (Germany) - segregates in family - - 1 - -
?/? 02 c.72G>T - p.Trp24Cys - - Marquardt 1998 DNA SEQ r.(?) 13 VMD Marquardt 1998 - - - - Caucasian (Germany) - segregates in family - - 1 - -
?/? 02 c.72G>T - p.Trp24Cys - Variant found in 7 from 18 family members tested. Four young patients were still asymptomatic. Chacon-Camacho 2011 DNA SEQ r.(?) Fam1 VMD Chacon-Camacho 2011, Germany:Regensburg Variant found in 7 from 18 family members tested. Four young patients were still asymptomatic. - - - - - 1/7 - - 1 DNA SEQ
?/? 02 c.73C>T - p.Arg25Trp - - Kraemer 2000 DNA SEQ r.(?) 14 VMD Kraemer 2000 - - - - Caucasian (Germany) - - - - 1 - -
?/? 02 c.73C>T - p.Arg25Trp - - Lotery 2000 DNA SEQ r.(?) unk VMD Lotery 2000 - - - - - - - - - 1 - -
?/? 02 c.73C>T - p.Arg25Trp - - Querques et al. 2009 DNA SEQ - CT09 CT V VMD Querques et al. 2009 - Female 10 9 African (Maghreb) - 1 family / 3 patients - - - DNA SEQ
?/? 02 c.73C>T - p.Arg25Trp - - Querques et al. 2009 DNA SEQ - CT10 CT V VMD Querques et al. 2009 - Female 36 30 African (Maghreb) - 1 family / 3 patients - - - DNA SEQ
?/? 02 c.73C>T - p.Arg25Trp - - Querques et al. 2009 DNA SEQ - CT11 CT V VMD Querques et al. 2009 - Male 70 60 African (Maghreb) - 1 family / 3 patients - - - DNA SEQ
?/? 02 c.74G>A - p.Arg25Gln - - Marquardt 1998 DNA SEQ r.(?) 15 VMD Marquardt 1998 - - - - Caucasian (Czech Republic) - - - - 1 - -
?/? 02 c.76G>C - p.Gly26Arg - - Kraemer 2003 DNA SEQ r.(?) 16 VMD Kraemer 2003 - - - - Caucasian (Germany) - - - - 1 - -
-?/-? 02 c.77G>A - p.Gly26Asp - - dbSNP DNA SEQ r.(?) dbSNPrs62639347 ? dbSNP - - - - - - - - - 1 - -
?/? 02 c.81C>G - p.Ser27Arg - - Kraemer 2000 DNA SEQ r.(?) 17 VMD Kraemer 2000 - - - - Caucasian (Germany) - - - - 1 - -
?/? 02 c.85T>C - p.Tyr29His - - Kraemer 2003 DNA SEQ r.(?) 18 VMD Kraemer 2003 - - - - Caucasian (Germany) - - - - 1 - -
?/? 02 c.87C>G - p.Tyr29X - - Schatz 2006 DNA SEQ r.(?) II:1, II:2 VMD Schatz 2006 compound heterozygote - - - Caucasian (Sweden) - segregates in family - - 1 - -
-/- 02 c.87C>T c.191C>T p.Tyr29Tyr - - Caldwell 1999 DNA SEQ r.(?) a normal Caldwell 1999 - - - - - - - - - 1 - -
-?/-? 02 c.88A>T - p.Lys30* - - dbSNP DNA SEQ r.(?) dbSNPrs62637047 ? dbSNP - - - - - - - - - 1 - -
?/? 02 c.89A>G - p.Lys30Arg - - Lotery 2000 DNA SEQ r.(?) 19 VMD Lotery 2000 - - - - - - segregates in family - - 1 - -
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?/? 02 c.89A>G - p.Lys30Arg - - Lotery 2000 DNA SEQ r.(?) 19 VMD Lotery 2000 - - - - - - segregates in family - - 1 - -
?/? 02 c.89A>G - p.Lys30Arg - - Lotery 2000 DNA SEQ r.(?) 19 VMD Lotery 2000 - - - - - - segregates in family - - 1 - -
?/? 02 c.89A>G p.Lys30Arg p.Lys30Arg - - Chung 2001 DNA SEQ r.(?) 9 VMD Chung 2001, Germany:Regensburg - - 9 - - - - - - 1 DNA SEQ
+?/+? 02 c.102C>T
    + c.572T>C
c.102C>T p.Gly34Gly - Synonymous variant leads to alteration of pre-mRNA splicing according to in vitro splice assay. Davidson et al. 2010 DNA SEQ p.Glu35TrpfsX11 Subject 1 ARB Davidson et al. 2010, Germany:Regensburg Variant not found in 210 control chromosomes. Female 44 19 Caucassian AR 1/1 - - 1 DNA SEQ
?/? 02 c.102C>T
    + c.1470_1471delCA
c.102C>T p.Gly34Gly - Synonymous variant leads to alteration of pre-mRNA splicing according to in vitro splice assay. Not found in 210 control chromosomes. Davidson et al. 2010 DNA SEQ p.Glu35TrpfsX11 Subject 2 ARB Davidson et al. 2010, Germany:Regensburg Original diagnosis was Stargardt macular dystrophy. Male 45 11 Caucassian AR 1/1 - - 1 DNA SEQ
?/? 02 c.103G>A - p.Glu35Lys - - Maia-Lopes et al. 2008 DNA SEQ r.(?) HM070111 VMD Maia-Lopes et al. 2008 - - - - - - - - - 1 - -
-/- 02 c.109T>C - p.Leu37Leu 0.483 dbSNP;0.397 Marquardt;0.044 Lotery - Marquardt 1998;Petrukhin 1998;Lotery 2000;Marchant 2001;dbSNP DNA SEQ, SSCP, SSCA r.(?) a normal Marquardt 1998;Petrukhin 1998;Lotery 2000;Marchant 2001 - - - - - - - - - 1 - -
?/? 02 c.122T>C - p.Leu41Pro - - Kraemer 2003 DNA SEQ r.(?) 20 VMD Kraemer 2003 - - - - Caucasian (Germany) - - - - 1 - -
?/? 02 c.122T>C
    + c.422G>A
- p.Leu41Pro - Not found in 105 controls. Mutations in trans. Burgess et al. 2008 DNA SEQ, SSCP, Restr Enzyme r.(?) Unkn4yrs ARB Burgess et al. 2008 - Female 4 - - - - - - 1 - -
?/? 02 c.122T>C
    + c.454C>G
- p.Leu41Pro - Not found in 105 controls. Mutations in trans. Burgess et al. 2008 DNA SEQ, SSCP, Restr Enzyme r.(?) Unkn7yrs ARB Burgess et al. 2008 - Female 7 - - - - - - 1 - -
-/- 02 c.122T>C - p.Leu41Pro - Not found in 105 controls. Burgess et al. 2008 DNA SEQ, SSCP, Restr Enzyme r.(?) UnknText Normal Burgess et al. 2008 Is heterozygote carrier of one mutation but is asymptomatic. - 55 - - - Individual aged 55, is relative of patient with ARB. - - 1 - -
?/? 02 c.122T>C
    + c.602T>C
c.122T>C p.Leu41Pro p.Leu41Pro - These two changes were absent in 1000 normal control chromosomes. Segretation of phenotype only in patients carrying both the Leu41Pro and Ile201Thr mutations. Zhao 2012 DNA SEQ - II-4 arVMD Zhao 2012 - Female 5 - Caucasian - 1 family/3 patients - - - DNA SEQ
-?/-? 02 c.129C>A - p.Tyr43* - - dbSNP DNA SEQ r.(?) dbSNPrs62637048 ? dbSNP - - - - - - - - - 1 - -
-?/-? 02 c.131A>C - p.Tyr44Ser - - dbSNP DNA SEQ r.(?) dbSNPrs62639349 ? dbSNP - - - - - - - - - 1 - -
?/? 02 c.139C>T
    + c.139C>T
c.139C>T p.Arg47Cys p.Arg47Cys - The mutation was absent in 300 healthy controls of Italian origin. Sodi 2011 DNA SEQ - C - 3 VMD Sodi 2011 Referred to clinic in 2004 at age 15 with a history of reduced vision in both eyes. Male 22 15 Caucasian (Italy) - 1 family/2 patients (parents consanguineous) - - - DNA SEQ
?/? 02 c.139C>T
    + c.139C>T
c.139C>T p.Arg47Cys p.Arg47Cys - The mutation was absent in 300 healthy controls of Italian origin. Sodi 2011 DNA SEQ - C - 3 VMD Sodi 2011 Referred to clinic in 2004 at age 15 with a history of reduced vision in both eyes. Male 22 15 Caucasian (Italy) - 1 family/2 patients (parents consanguineous) - - - DNA SEQ
?/? 02 c.139C>T
    + c.139C>T
c.139C>T p.Arg47Cys p.Arg47Cys - The mutation was absent in 300 healthy controls of Italian origin. Sodi 2011 DNA SEQ - C - 4 VMD Sodi 2011 - Female 16 13 Caucasian (Italy) - 1 family/2 patients (parents consanguineous) - - - DNA SEQ
?/? 02 c.139C>T
    + c.139C>T
c.139C>T p.Arg47Cys p.Arg47Cys - The mutation was absent in 300 healthy controls of Italian origin. Sodi 2011 DNA SEQ - C - 4 VMD Sodi 2011 - Female 16 13 Caucasian (Italy) - 1 family/2 patients (parents consanguineous) - - - DNA SEQ
?/? 02 c.140G>A - p.Arg47His - - Kraemer 2000 DNA SEQ r.(?) 21 AVMD Kraemer 2000 - - - - Caucasian (Germany) - - - - 1 - -
?/? 05 c.626G>A
    + c.61C>G
- p.Ser209Asn - - Kraemer 2000 DNA SEQ r.(?) 12 B-29 VMD Kraemer 2000 - - - - Caucasian (United Kingdom) - segregates in family - - 1 - -
?/? 05 c.626G>A
    + c.61C>G
- p.Ser209Asn - - Kraemer 2000 DNA SEQ r.(?) 12 B-30 VMD Kraemer 2000 - - - - Canada - segregates in family - - 1 - -
?/? 03 c.? - p.Thr55Thr 0/192 Best, 1/642 AMD, 0/384 controls Lotery - Lotery 2000 DNA SSCP r.(?) a AMD? Lotery 2000 - - - - - - - - - 1 - -
?/? 03 c.176A>T - p.Gln58Leu - - Kraemer 2000 DNA SEQ r.(?) 22 VMD Kraemer 2000 - - - - Caucasian (Germany) - - - - 1 - -
-?/-? 03 c.184T>C - p.Phe62Leu - - dbSNP DNA SEQ r.(?) dbSNPrs62637051 ? dbSNP - - - - - - - - - 1 - -
-?/-? 03 c.186T>C - p.=? - - dbSNP DNA SEQ r.(?) dbSNPrs62637052 ? dbSNP - - - - - - - - - 1 - -
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Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Variant
original
description:
Original report Protein: Variation at protein level. Frequency: Frequency if variant is non pathogenic. Variant remarks: Variant remarks Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Remarks: Remarks Gender: Patient gender Age molecular diagnosis: Age at which molecular diagnosis (genetic testing) was carried out. Age first symptoms: Age at which patient had first symptoms or changes were observed. Ethnic origin: Ethnic origin of patient Mode of Inheritance: Mode of Inheritance Families/Patients: Number of independent families and number of affected patients Mut. origin: Origin of mutation Phenotype additional: Phenotype, additional features # Reported: Number of times this case has been reported Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation.