Geno
|
Mag
|
Summary
|
(A;A)
|
0.5
|
likely to be benign
|
(A;C)
|
0.5
|
likely to be benign
|
(C;C)
|
0
|
common in clinvar
|
rs36210423 is a variant in the SCN5A gene on chromosome 3. The major allele (on the minus strand) is C; all three possible minor alleles (A,G,T) have apparently been reported as occurring, according to dbSNP. The three minor alleles and their more common protein designations are:
- c.1715C>A, Ala572Asp or A527D
- c.1715C>T, Ala572Val or A572D
- c.1715C>G, Ala572Gly or A572G
Most reports of pathogenicity (or the lack of it) focus on A572D, which was initially reported as a pathogenic (and dominant) mutation potentially leading to a mild form of long QT syndrome.[PMID 12820704]. Subsequent analyses by several groups have tended to conclude that all rs36210423 variants are likely to be benign.[PMID 22378279]
ClinVar
|
Risk
|
Rs36210423(A;A) rs36210423(G;G) rs36210423(T;T) |
Alt
|
Rs36210423(A;A) rs36210423(G;G) rs36210423(T;T) |
Reference
|
Rs36210423(C;C) |
Significance |
Other |
Disease |
Congenital long QT syndrome not specified Paroxysmal familial ventricular fibrillation 1 Left ventricular noncompaction cardiomyopathy Cardiac arrest Brugada syndrome Cardiovascular phenotype Sick sinus syndrome Long QT syndrome Progressive familial heart block Romano-Ward syndrome Dilated Cardiomyopathy Paroxysmal familial ventricular fibrillation not provided |
Variation | info |
---|
Gene |
SCN5A |
CLNDBN |
Congenital long QT syndrome not specified Paroxysmal familial ventricular fibrillation 1 Left ventricular noncompaction cardiomyopathy Cardiac arrest Brugada syndrome Cardiovascular phenotype Sick sinus syndrome Long QT syndrome Progressive familial heart block Romano-Ward syndrome Dilated Cardiomyopathy, Dominant Paroxysmal familial ventricular fibrillation not provided |
Reversed |
1 |
HGVS |
NC_000003.11:g.38645378G>A; NC_000003.11:g.38645378G>T |
CLNSRC |
UniProtKB (protein) |
CLNACC |
RCV000058448.3, RCV000455370.1, RCV000058447.3, RCV000143951.2, RCV000151795.3, RCV000157480.1, RCV000157481.1, RCV000230669.3, RCV000244195.1, RCV000264595.1, RCV000268589.1, RCV000326049.1, RCV000356951.1, RCV000360867.1, RCV000382728.1, RCV000438831.1, |