Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Gly314Arg (p.G314R)
(
ENST00000155840.12,
ENST00000496887.7,
ENST00000713725.1,
ENST00000335475.6,
ENST00000646564.2 )
KCNQ1 p.Gly314Arg (p.G314R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.940G>C (p.Gly314Arg) AND Cardiovascular phenotype
- ClinVar Allele ID
- 67804
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.670G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406838.1:c.496G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.940G>C
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.940G>C
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.559G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-03-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000621036
- Observed Origin Sample
- germline
Drugs