Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Gly589Asp (p.G589D)
(
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 ) - Associated Disease
- Jervell and Lange-Nielsen syndrome 1
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) AND Jervell and Lange-Nielsen syndrome 1
- ClinVar Allele ID
- 18179
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.1496G>A
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.1385G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406838.1:c.1226G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406839.1:c.278G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.1670G>A
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.1766G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003289
- ClinVar Disease
- Jervell and Lange-Nielsen syndrome 1
- Observed Origin Sample
- germline
- Pubmed
- 11216980
Drugs