LOVD - Variant listings for BEST1

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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The variants below are all in the BEST1 database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.

91 entries
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01 c.-221C>T - p.0? 0.416 Marquardt;0.437 Kraemer - Marquardt 1998;Kraemer 2000 DNA SEQ, SSCA r.(?)
01 c.-206T>C - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-64A>G - p.=? - - dbSNP DNA SEQ -
01 c.-63T>C - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-61A>G - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-60T>C - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-42C>T - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-28C>G - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-15G>A - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-8G>C - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-2C>T - p.=? - - dbSNP DNA SEQ r.(?)
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.(?)
02 c.1A>G - p.Met1? - - dbSNP DNA SEQ r.(?)
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 -
02 c.21C>T - p.=? - - dbSNP DNA SEQ r.(?)
02 c.77G>A - p.Gly26Asp - - dbSNP DNA SEQ r.(?)
02 c.87C>T c.191C>T p.Tyr29Tyr - - Caldwell 1999 DNA SEQ r.(?)
02 c.88A>T - p.Lys30* - - dbSNP DNA SEQ r.(?)
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.(?)
02 c.122T>C - p.Leu41Pro - Not found in 105 controls. Burgess et al. 2008 DNA SEQ, SSCP, Restr Enzyme r.(?)
02 c.129C>A - p.Tyr43* - - dbSNP DNA SEQ r.(?)
02 c.131A>C - p.Tyr44Ser - - dbSNP DNA SEQ r.(?)
03 c.184T>C - p.Phe62Leu - - dbSNP DNA SEQ r.(?)
03 c.186T>C - p.=? - - dbSNP DNA SEQ r.(?)
03 c.187G>A - p.Glu63Lys - - dbSNP DNA SEQ r.(?)
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03 c.201G>C c.305G>C p.Leu67Leu 0.050 Allikmets - dbSNP;Allikmets 1999 DNA SEQ, SSCP r.(?)
03 c.207C>G - p.Cys69Trp - - dbSNP DNA SEQ r.(?)
03 c.209A>C - p.Asp70Ala - - dbSNP DNA SEQ r.(?)
03 c.213C>T - p.=? - - dbSNP DNA SEQ r.(?)
03 c.216C>T - p.=? - - dbSNP DNA SEQ r.(?)
03 c.219C>A c.323C>A p.Ile73Ile 0.475 dbSNP; 0.158 Allikmets; 0.080 Kraemer; 0.219 Lotery - dbSNP;Caldwell 1999;Petrukhin 1998;Caldwell 1999;Allikmets 1999;Kraemer 2000;Lotery 2000;Marchant2001 DNA SEQ, HD, SSCA r.(?)
03 c.222G>A c.326G>A p.Gln74Gln - - dbSNP;Allikmets 1999 DNA SEQ, SSCP r.(?)
03 c.225C>T - p.=? - - dbSNP DNA SEQ r.(?)
03 c.248-12C>T - - 0.021 Kraemer - Kraemer 2003 DNA SSCP r.(?)
04 c.267C>G - p.=? - - dbSNP DNA SEQ r.(?)
04 c.331T>G - p.Ser111Ala - - dbSNP DNA SEQ r.(?)
04 c.334G>A - p.Gly112Ser - - dbSNP DNA SEQ r.(?)
04 c.422G>A - p.Arg141His - Not found in 105 controls. Relative of patient with ARB, carrier of heterozygote mutation but is asymptomatic. Burgess et al. 2008 DNA SEQ, SSCP, Restr Enzyme r.(?)
04 c.482-24C>T c.IVS4-24C>T - 0.400 Kraemer - Petrukhin 1998;Allikmets 1999;Kraemer 2000;Kraemer 2000;Lotery 2000 DNA SEQ r.(?)
05 c.531A>C - p.=? - - dbSNP DNA SEQ r.(?)
05 c.536A>G - p.Asn179Ser - - dbSNP DNA SEQ r.(?)
05 c.538A>G - p.Met180Val - - dbSNP DNA SEQ r.(?)
05 c.559T>C - p.Trp187Arg - - dbSNP DNA SEQ r.(?)
05 c.565G>A - p.Ala189Thr - - dbSNP DNA SEQ r.(?)
05 c.566C>T - p.Ala189Val - - dbSNP DNA SEQ r.(?)
05 c.591T>A - p.=? - - dbSNP DNA SEQ r.(?)
05 c.592G>A - p.Gly198Arg - - dbSNP DNA SEQ r.(?)
05 c.598C>T - p.Arg200X - Not found in 105 controls. Individual aged 68, is relative of patient with ARB. Is heterozygote carrier of one mutation but is asymptomatic. Burgess et al. 2008 DNA SEQ, SSCP, Restr Enzyme r.(?)
05 c.605G>T - p.Arg202Leu - - dbSNP DNA SEQ r.(?)
05 c.608A>C - p.Asp203Ala - - dbSNP DNA SEQ r.(?)
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05 c.615C>G - p.Ile205Met - - dbSNP DNA SEQ r.(?)
05 c.618G>A - p.=? - - dbSNP DNA SEQ r.(?)
05 c.622C>G - p.Gln208Glu - - dbSNP DNA SEQ r.(?)
05 c.634A>C - p.Asn212His - - dbSNP DNA SEQ r.(?)
06 c.639G>A - p.=? - - dbSNP DNA SEQ r.(?)
07 c.715-12_-4del9 - - 0.114 Marquardt;0.187 Kraemer - Petrukhin 1998;Kraemer 2000 DNA SEQ, SSCA, SSCP r.(?)
07 c.715-9_715-4delTCCTCC IVS6-9(delTCCTCC) - - - Allikmets 1999 DNA SEQ r.(?)
07 c.753delT - p.Leu252* - - dbSNP DNA SEQ r.(?)
07 c.789C>A - p.=? - - dbSNP DNA SEQ r.(?)
07 c.792C>G - p.Tyr264* - - dbSNP DNA SEQ r.(?)
07 c.798C>A - p.=? - - dbSNP DNA SEQ r.(?)
07 c.805C>T - p.=? - - dbSNP DNA SEQ r.(?)
07 c.808G>A - p.Asp270Asn - - dbSNP DNA SEQ r.(?)
07 c.813delC - p.Val272Leufs*17 - - dbSNP DNA SEQ r.(?)
07 c.815T>G - p.Val272Gly - - dbSNP DNA SEQ r.(?)
07 c.826T>C - p.Phe276Leu - Lotery 2000 reported that c.828C>G was disease-causing in a sporadic case of Best dbSNP DNA SEQ r.(?)
07 c.829A>G - p.Thr277Ala - - dbSNP DNA SEQ r.(?)
07 c.830C>G - p.Thr277Arg - - dbSNP DNA SEQ r.(?)
07 c.831G>A - p.=? - - dbSNP DNA SEQ r.(?)
07 c.832T>C - p.Phe278Leu - - dbSNP DNA SEQ r.(?)
07 c.841T>C - p.Phe281Leu - - dbSNP DNA SEQ r.(?)
07 c.845T>C - p.Phe282Ser - - dbSNP DNA SEQ r.(?)
08 c.934G>A - p.Asp312Asn - Not found in 105 controls. Four individuals aged 16-73, relatives of patient with ARB are heterozygote carriers of one mutation but are asymptomatic. Burgess et al. 2008 DNA SEQ, SSCP, Restr Enzyme r.(?)
08 c.938G>A - p.Arg313Lys - - dbSNP DNA SEQ r.(?)
09 c.974T>C - p.Met325Thr - Not found in 105 controls. Three individuals aged 16-78, relatives of patient with ARB are heterozygote carriers of the mutation but are asymptomatic. Burgess et al. 2008 DNA SEQ, SSCP, Restr Enzyme r.(?)
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09 c.1070C>T - p.Ala357Val - - dbSNP DNA SEQ r.(?)
10 c.1322A>G - p.Asp441Gly - - dbSNP DNA SEQ r.(?)
10 c.1380delG - p.Arg461Glyfs*21 - - dbSNP DNA SEQ r.(?)
10 c.1410G>A c.1514G>A p.Thr470Thr 0.411 Marquardt;0.400 Allikmets;0.404 Kraemer - dbSNP;Marquardt 1998;Petrukhin 1998;Caldwell 1999;Allikmets 1999;Kraemer 2000;Marchant 2001 DNA SEQ, SSCA, HD, SSCP r.(?)
10 c.1520C>T - p.Ser507Phe - - dbSNP DNA SEQ r.(?)
10 c.1530G>A - p.=? - - dbSNP DNA SEQ r.(?)
10 c.1557C>T c.1661C>T p.Ser519Ser 0.475 dbSNP;0.366 Allikmets - dbSNP;Petrukhin 1998;Marquardt 1998;Caldwell 1999;Allikmets 1999;Marchant 2001;dbSNP DNA SEQ, SSCA, HD, SSCP r.(?)
10 c.1558G>A - p.Asp520Asn - - dbSNP DNA SEQ r.(?)
10 c.1581A>G - p.=? - - dbSNP DNA SEQ r.(?)
10 c.1593A>G - p.=? - - dbSNP DNA SEQ r.(?)
10 c.1608T>C c.1712T>C p.Thr536Thr 0.455 Allikmets 146/414 AMD, 103/294 controls. - dbSNP;Marquardt 1998;Petrukhin 1998;Caldwell 1999;Allikmets 1999;Marchant 2001 DNA SEQ, SSCA, HD, SSCP r.(?)
10 c.*105A>G - p.=? - - dbSNP DNA SEQ r.(?)
10 c.*133T>C - p.=? - - dbSNP DNA SEQ r.(?)
10 c.*216T>C - p.=? - - dbSNP DNA SEQ r.(?)
11 c.1891T>C c.1995T>C 3' UTR 0.078 Allikmets - Allikmets 1999 DNA SEQ, SSCP r.(?)
11 c.1974T>C c.2078T>C 3' UTR 0.020 Allikmets - Allikmets 1999 DNA SEQ, SSCP r.(?)
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Legend: [ BEST1 full legend ]
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.
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.