Annotation Detail
Information
- Associated Genes
- PRKAG2
- Associated Variants
-
PRKAG2 p.Phe323Ile (p.F323I)
(
ENST00000287878.9,
ENST00000392801.6,
ENST00000418337.6,
ENST00000492843.6,
ENST00000650858.1,
ENST00000651378.1,
ENST00000651764.1,
ENST00000652047.1,
ENST00000652159.1,
ENST00000652321.2 )
PRKAG2 p.Phe323Ile (p.F323I) ( ENST00000287878.9, ENST00000392801.6, ENST00000418337.6, ENST00000492843.6, ENST00000650858.1, ENST00000651378.1, ENST00000651764.1, ENST00000652047.1, ENST00000652159.1, ENST00000652321.2 ) - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_016203.4(PRKAG2):c.967T>A (p.Phe323Ile) AND Hypertrophic cardiomyopathy
- ClinVar Allele ID
- 54904
- ClinVar RefSeq Alternation Syntax
- NM_001040633.2:c.835T>A
- ClinVar RefSeq Alternation Syntax
- NM_001363698.2:c.595T>A
- ClinVar RefSeq Alternation Syntax
- NM_024429.2:c.244T>A
- ClinVar RefSeq Alternation Syntax
- NM_016203.4:c.967T>A
- ClinVar RefSeq Alternation Syntax
- NM_001304527.2:c.592T>A
- ClinVar RefSeq Alternation Syntax
- NM_001304531.2:c.244T>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2008-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038962
- ClinVar Disease
- Hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs