Annotation Detail
Information
- Associated Genes
- PRKAG2
- Associated Variants
-
PRKAG2 p.His383Arg (p.H383R)
(
ENST00000287878.9,
ENST00000392801.6,
ENST00000418337.6,
ENST00000492843.6,
ENST00000650858.1,
ENST00000651378.1,
ENST00000651764.1,
ENST00000652047.1,
ENST00000652159.1,
ENST00000652321.2 )
PRKAG2 p.His383Arg (p.H383R) ( ENST00000287878.9, ENST00000392801.6, ENST00000418337.6, ENST00000492843.6, ENST00000650858.1, ENST00000651378.1, ENST00000651764.1, ENST00000652047.1, ENST00000652159.1, ENST00000652321.2 ) - Associated Disease
- hypertrophic cardiomyopathy 6
- Source Database
- ClinVar
- Description
- NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) AND Hypertrophic cardiomyopathy 6
- ClinVar Allele ID
- 21886
- ClinVar RefSeq Alternation Syntax
- NM_016203.4:c.1148A>G
- ClinVar RefSeq Alternation Syntax
- NM_001304531.2:c.425A>G
- ClinVar RefSeq Alternation Syntax
- NM_001304527.2:c.773A>G
- ClinVar RefSeq Alternation Syntax
- NM_001040633.2:c.1016A>G
- ClinVar RefSeq Alternation Syntax
- NM_001363698.2:c.776A>G
- ClinVar RefSeq Alternation Syntax
- NM_024429.2:c.425A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-05-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007250
- ClinVar Disease
- Hypertrophic cardiomyopathy 6
- Observed Origin Sample
- germline
- Pubmed
- 11371514
Drugs