Annotation Detail
Information
- Associated Genes
- PRKAG2
- Associated Variants
-
PRKAG2 p.His530Arg (p.H530R)
(
ENST00000287878.9,
ENST00000392801.6,
ENST00000418337.6,
ENST00000492843.6,
ENST00000650858.1,
ENST00000651378.1,
ENST00000651764.1,
ENST00000652047.1,
ENST00000652159.1,
ENST00000652321.2 )
PRKAG2 p.His530Arg (p.H530R) ( 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.1589A>G (p.His530Arg) AND Hypertrophic cardiomyopathy 6
- ClinVar Allele ID
- 21893
- ClinVar RefSeq Alternation Syntax
- NM_001304527.2:c.1214A>G
- ClinVar RefSeq Alternation Syntax
- NM_016203.4:c.1589A>G
- ClinVar RefSeq Alternation Syntax
- NM_001040633.2:c.1457A>G
- ClinVar RefSeq Alternation Syntax
- NM_001304531.2:c.866A>G
- ClinVar RefSeq Alternation Syntax
- NM_024429.2:c.866A>G
- ClinVar RefSeq Alternation Syntax
- NM_001363698.2:c.1217A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007257
- ClinVar Disease
- Hypertrophic cardiomyopathy 6
- Observed Origin Sample
- germline
- Pubmed
- 18403758
Drugs