Annotation Detail

Information
Associated Genes
KCNE1
Associated Variants
KCNE1 p.Thr125Met (p.T125M) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Arg98Trp (p.R98W) ( ENST00000399289.7, ENST00000399286.3, ENST00000416357.6, ENST00000399284.1, ENST00000337385.7, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Arg98= (p.R98=) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Asp85Asn (p.D85N) ( ENST00000416357.6, ENST00000399284.1, ENST00000399286.3, ENST00000337385.7, ENST00000399289.7, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Arg67His (p.R67H) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Thr10Met (p.T10M) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Ala8Val (p.A8V) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Ala8Glu (p.A8E) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Thr125Met (p.T125M) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Arg98Trp (p.R98W) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Arg98= (p.R98=) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Asp85Asn (p.D85N) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Arg67His (p.R67H) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Thr10Met (p.T10M) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Ala8Val (p.A8V) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Ala8Glu (p.A8E) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
Associated Disease
long QT syndrome
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.280000439372557
Year of publication
NA
Drugs