Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Ala302Val (p.A302V)
(
ENST00000155840.12,
ENST00000496887.7,
ENST00000713725.1,
ENST00000335475.6,
ENST00000646564.2 )
KCNQ1 p.Ala302Val (p.A302V) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) AND Cardiovascular phenotype
- ClinVar Allele ID
- 45102
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.635C>T
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.905C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.905C>T
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.524C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-09-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000618395
- Observed Origin Sample
- germline
Drugs