Annotation Detail
Information
- Associated Genes
- PRKAG2
- Associated Variants
-
PRKAG2 p.Arg531Gln (p.R531Q)
(
ENST00000287878.9,
ENST00000392801.6,
ENST00000418337.6,
ENST00000492843.6,
ENST00000650858.1,
ENST00000651378.1,
ENST00000651764.1,
ENST00000652047.1,
ENST00000652159.1,
ENST00000652321.2 )
PRKAG2 p.Arg531Gln (p.R531Q) ( ENST00000287878.9, ENST00000392801.6, ENST00000418337.6, ENST00000492843.6, ENST00000650858.1, ENST00000651378.1, ENST00000651764.1, ENST00000652047.1, ENST00000652159.1, ENST00000652321.2 ) - Associated Disease
- lethal congenital glycogen storage disease of heart
- Source Database
- ClinVar
- Description
- NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) AND Lethal congenital glycogen storage disease of heart
- ClinVar Allele ID
- 21891
- ClinVar RefSeq Alternation Syntax
- NM_001363698.2:c.1220G>A
- ClinVar RefSeq Alternation Syntax
- NM_016203.4:c.1592G>A
- ClinVar RefSeq Alternation Syntax
- NM_001040633.2:c.1460G>A
- ClinVar RefSeq Alternation Syntax
- NM_024429.2:c.869G>A
- ClinVar RefSeq Alternation Syntax
- NM_001304527.2:c.1217G>A
- ClinVar RefSeq Alternation Syntax
- NM_001304531.2:c.869G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-05-26
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007255
- ClinVar Disease
- Lethal congenital glycogen storage disease of heart
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Pubmed
- 15877279
- Pubmed
- 10368461
- Pubmed
- 14696860
Drugs