Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Gly345Arg (p.G345R)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6 )
KCNQ1 p.Gly345Arg (p.G345R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.1033G>C (p.Gly345Arg) AND Long QT syndrome
- ClinVar Allele ID
- 67608
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.1033G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.763G>C
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.652G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-08-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000045943
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
Drugs