Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Arg518Ter (p.R518*)
(
ENST00000335475.6,
ENST00000155840.12,
ENST00000496887.7,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Arg518Ter (p.R518*) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Jervell and Lange-Nielsen syndrome 1
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) AND Jervell and Lange-Nielsen syndrome 1
- ClinVar Allele ID
- 18170
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.1552C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.1456C>T
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.1171C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406838.1:c.1012C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.1282C>T
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001847566
- ClinVar Disease
- Jervell and Lange-Nielsen syndrome 1
- Observed Origin Sample
- germline
Drugs