Annotation Detail
Information
- Associated Genes
- GAA
- Associated Variants
-
GAA p.Met318Thr (p.M318T)
(
ENST00000714062.1,
ENST00000570803.6,
ENST00000390015.7,
ENST00000714054.1,
ENST00000577106.6,
ENST00000714057.1,
ENST00000714058.1,
ENST00000302262.8,
ENST00000714055.1 )
GAA p.Met318Thr (p.M318T) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 ) - Associated Disease
- Glycogen storage disease type II, infantile
- Source Database
- ClinVar
- Description
- NM_000152.5(GAA):c.953T>C (p.Met318Thr) AND Glycogen storage disease type II, infantile
- ClinVar Allele ID
- 19060
- ClinVar RefSeq Alternation Syntax
- NM_001079803.3:c.953T>C
- ClinVar RefSeq Alternation Syntax
- NM_000152.5:c.953T>C
- ClinVar RefSeq Alternation Syntax
- NM_001079804.3:c.953T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1991-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004236
- ClinVar Disease
- Glycogen storage disease type II, infantile
- Observed Origin Sample
- germline
- Pubmed
- 1652892
Drugs