Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Val254Met (p.V254M)
(
ENST00000155840.12,
ENST00000335475.6,
ENST00000496887.7,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Val254Leu (p.V254L) ( ENST00000646564.2, ENST00000335475.6, ENST00000713725.1, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Val254Leu (p.V254L) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000335475.6, ENST00000646564.2 )
KCNQ1 p.Val254Met (p.V254M) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Val254Leu (p.V254L) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Val254Leu (p.V254L) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- The second mutation, V254M in KCNQ1, co-segregated with higher QT intervals and symptoms in other family members, and was previously reported in another LQTS family.
- Pubmed
- 12820704
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.41651083741347
- Year of publication
- 2003
Drugs