Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Gly168Arg (p.G168R)
(
ENST00000335475.6,
ENST00000496887.7,
ENST00000155840.12,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Gly168Arg (p.G168R) ( ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000335475.6, ENST00000713725.1 )
KCNQ1 p.Ala341Glu (p.A341E) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Ala341Gly (p.A341G) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Ala341Val (p.A341V) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Lys362Arg (p.K362R) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000335475.6, ENST00000646564.2 )
KCNQ1 p.Gly168Arg (p.G168R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly168Arg (p.G168R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala341Glu (p.A341E) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala341Gly (p.A341G) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala341Val (p.A341V) ( ENST00000646564.2, ENST00000713725.1, ENST00000155840.12, ENST00000335475.6, ENST00000496887.7 )
KCNQ1 p.Lys362Arg (p.K362R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Romano-Ward Syndrome
- Source Database
- DisGeNET
- Description
- A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6) was performed for 541 consecutive, unrelated patients (358 females, average age at diagnosis 24 +/- 16 years, average QTc 482 +/- 57 ms) referred to Mayo Clinic's Sudden Death Genomics Laboratory for LQTS genetic testing between August 1997 and July 2004.
- Pubmed
- 15840476
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.573049072903183
- Year of publication
- 2005
Drugs