Geno
|
Mag
|
Summary
|
(C;C)
|
0
|
common in clinvar
|
(C;T)
|
1
|
variant allele is designated benign in ClinVar
|
aka c.1986C>T and p.Tyr662=
The minor allele is designated benign in ClinVar.
ClinVar
|
Risk
|
rs11601907(G;G) rs11601907(T;T) |
Alt
|
rs11601907(G;G) rs11601907(T;T) |
Reference
|
Rs11601907(C;C) |
Significance |
Non-pathogenic |
Disease |
Short QT syndrome KCNQ1-Related Disorders Jervell and Lange-Nielsen syndrome not specified Cardiovascular phenotype Familial atrial fibrillation Romano-Ward syndrome Long QT syndrome |
Variation | info |
---|
Gene |
KCNQ1-AS1 KCNQ1 |
CLNDBN |
short QT syndrome KCNQ1-Related Disorders Jervell and Lange-Nielsen syndrome not specified Cardiovascular phenotype Familial atrial fibrillation Romano-Ward syndrome Long QT syndrome |
Reversed |
0 |
HGVS |
NC_000011.9:g.2869188C>G; NC_000011.9:g.2869188C>T |
CLNSRC |
|
CLNACC |
RCV000259965.1, RCV000301137.1, RCV000355003.1, RCV000455796.1, RCV000035345.4, RCV000245782.1, RCV000275123.1, RCV000276443.1, RCV000330439.1, RCV000356002.1, RCV000389609.1, |