Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Pro448Leu (p.P448L)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000646564.2,
ENST00000335475.6,
ENST00000713725.1 )
KCNQ1 p.Pro448Leu (p.P448L) ( 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.1343C>T (p.Pro448Leu) AND Jervell and Lange-Nielsen syndrome 1
- ClinVar Allele ID
- 77923
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.1343C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.1247C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.1073C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406838.1:c.803C>T
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.962C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-05-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001104825
- ClinVar Disease
- Jervell and Lange-Nielsen syndrome 1
- Observed Origin Sample
- germline
Drugs