NM_000152.5(GAA):c.2370T>C (p.Pro790=) AND Glycogen storage disease, type II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003610842.2
Allele description [Variation Report for NM_000152.5(GAA):c.2370T>C (p.Pro790=)]
NM_000152.5(GAA):c.2370T>C (p.Pro790=)
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
-
UDP-N-acetylglucosamine 4,6-dehydratase (configuration-retaining) [Campylobacter...
UDP-N-acetylglucosamine 4,6-dehydratase (configuration-retaining) [Campylobacter jejuni CVM 41921]gi|2805322502|gnl|PRJNA292664|ACE01 65|gb|XGX67259.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024