NM_000152.5(GAA):c.32G>A (p.Arg11Gln) AND Glycogen storage disease, type II
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000525907.15
Allele description [Variation Report for NM_000152.5(GAA):c.32G>A (p.Arg11Gln)]
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
Condition(s)
- Name:
- Glycogen storage disease, type II (GSD2)
- Synonyms:
- ACID ALPHA-GLUCOSIDASE DEFICIENCY; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM; GSD II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009290; MedGen: C0017921; Orphanet: 365; OMIM: 232300
-
Blood transfusions and the immune system - Blood Groups and Red Cell Antigens
Blood transfusions and the immune system - Blood Groups and Red Cell Antigens
-
Same Parent, Connectivity for PubChem Compound (Select 57912147) (103)
PubChem Compound
-
Mixture/Component Compounds for PubChem Compound (Select 57912150... (1)
Mixture/Component Compounds for PubChem Compound (Select 57912150)SearchPubChem Compound
-
Profile neighbors for GEO Profiles (Select 50679428) (150)
GEO Profiles
-
Taxonomy Links for Protein (Select 2711167042) (1)
Taxonomy
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 16, 2024