Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Leu151GlyfsTer133 (p.L151Gfs*133)
(
ENST00000646564.2,
ENST00000335475.6,
ENST00000713725.1,
ENST00000496887.7,
ENST00000155840.12 )
KCNQ1 p.Arg192CysfsTer91 (p.R192Cfs*91) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Ser276ProfsTer13 (p.S276Pfs*13) ( ENST00000335475.6, ENST00000646564.2, ENST00000713725.1, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Leu151GlyfsTer133 (p.L151Gfs*133) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg192CysfsTer91 (p.R192Cfs*91) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ser276ProfsTer13 (p.S276Pfs*13) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gln544ValfsTer108 (p.Q544Vfs*108) ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Gln544ValfsTer108 (p.Q544Vfs*108) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Trp305Ter (p.W305*) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Trp305Ser (p.W305S) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Trp305Leu (p.W305L) ( ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000335475.6, ENST00000713725.1 )
KCNQ1 p.Thr587Met (p.T587M) ( ENST00000526095.2, ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly589Asp (p.G589D) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Trp305Ter (p.W305*) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Trp305Ser (p.W305S) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Trp305Leu (p.W305L) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Thr587Met (p.T587M) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly589Asp (p.G589D) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg190AlafsTer95 (p.R190Afs*95)
KCNQ1 p.Arg190AlafsTer95 (p.R190Afs*95) - Associated Disease
- Jervell-Lange Nielsen syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.585217806841668
- Year of publication
- NA
Drugs