Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Ser209Pro (p.S209P)
(
ENST00000155840.12,
ENST00000496887.7,
ENST00000335475.6,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Ser209Pro (p.S209P) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Atrial fibrillation, familial, 3
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.625T>C (p.Ser209Pro) AND Atrial fibrillation, familial, 3
- ClinVar Allele ID
- 77990
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.625T>C
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.244T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.355T>C
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.625T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000115006
- ClinVar Disease
- Atrial fibrillation, familial, 3
- Observed Origin Sample
- germline
- Pubmed
- 19632626
Drugs