LOVD - Variant listings for UNC13D

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39 public entries
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DNA change   Descending
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Protein Hide Protein column Descending
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dbSNP ID Hide dbSNP ID column Descending
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Race Hide Race column Descending
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Reference Hide Reference column Descending
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Ethnic origin Hide Ethnic origin column Descending
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?/? chr17:71335662C>T
    + 1113 others
p.H1084H rs61753922 - - -
?/? chr17:71335716C>T
    + 1113 others
p.E1066E rs7210574 - - -
?/? chr17:71337715C>T
    + 1113 others
p.E981E rs35628234 - - -
?/? chr17:71338086A>G
    + 1113 others
p.R928C rs35037984 - - -
?/? chr17:71338800C>T
    + 1113 others
p.K867E rs1135688 - - -
?/? chr17:71338825C>G
    + 1113 others
p.H858Q rs17496835 - - -
?/? chr17:71342387G>T
    + 1113 others
p.T666T rs34956653 - - -
?/? chr17:71342611C>T
    + 1113 others
p.T659T rs2290770 - - -
?/? chr17:71343428A>G
    + 1113 others
p.T541M rs3744025 - - -
?/? chr17:71347578A>C
    + 1113 others
p.A331D rs61754945 - - -
?/? chr17:71347741A>G
    + 1113 others
p.L302F rs55661958 - - -
?/? chr17:71347757C>G
    + 1113 others
p.P296P rs7223416 - - -
?/? chr17:71347912A>G
    + 1113 others
p.I283V rs61754871 - - -
?/? chr17:71350732A>G
    + 1113 others
p.P93P rs3744007 - - -
?/? chr17:71350921C>T
    + 1113 others
p.A59T rs9904366 - - -
+/+ c.175G>A
    + 3359 others
p.A59T - - - -
+/+ c.247C>T
    + 3359 others
p.R83X - - - -
+/+ c.610A>G
    + 3359 others
p.M204V - - - -
+/+ c.640C>T
    + 3359 others
p.R214X - - - -
+/+ c.766C>T
    + 3359 others
p.R256X - - - -
+/+ c.817C>T
    + 3359 others
p.R273X - - - -
+/+ c.869C>T
    + 3359 others
p.S290L - - - -
+/+ c.1061G>T
    + 3359 others
p.W354L - - - -
+/+ c.1145G>A
    + 3359 others
p.W382X - - - -
+/+ c.1208T>C
    + 3359 others
p.L403P - - - -
+/+ c.1241G>T
    + 3359 others
p.R414L - - - -
+/+ c.1579C>T
    + 3359 others
p.R527W - - - -
+/+ c.1760G>A
    + 3359 others
p.R587H - - - -
+/+ c.2039G>C
    + 3359 others
p.R680P - - - -
+/+ c.2163G>A
    + 3359 others
p.W721X - - - -
+/+ c.2191G>A
    + 3359 others
p.V731M - - - -
+/+ c.2570T>G
    + 3359 others
p.F857C - - - -
+/+ c.2650C>T
    + 3359 others
p.Q884X - - - -
+/+ c.2672T>C
    + 3359 others
p.L891P - - - -
+/+ c.2782C>T
    + 3359 others
p.R928C - - - -
+/+ c.2783G>C
    + 3359 others
p.R928P - - - -
+/+ c.3131T>G
    + 3359 others
p.L1044R - - - -
+/+ c.3173T>C
    + 3359 others
p.L1058P - - - -
+/+ c.3193C>T
    + 3359 others
p.R1065X - - - -
1 - 39

Legend: [ UNC13D 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. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. DNA change: Variation at DNA-level to coding DNA Reference Sequence. ex: c.7C>T, c.-15T>A, c.77+1G>A, 78-1G>A, c.*2T>A Protein: Variation at protein level. dbSNP ID: rs# Race: Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Ethnic origin: Ethnic origin of patient


For research use only. Husami et al. 2006-2010