Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Ser140Gly (p.S140G)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6 )
KCNQ1 p.Ser140Gly (p.S140G) ( 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.418A>G (p.Ser140Gly) AND Atrial fibrillation, familial, 3
- ClinVar Allele ID
- 18182
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.418A>G
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.37A>G
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.418A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406838.1:c.418A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.148A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-01-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003293
- ClinVar Disease
- Atrial fibrillation, familial, 3
- Observed Origin Sample
- germline
- Pubmed
- 12522251
- Pubmed
- 28383569
Drugs