NM_000152.5(GAA):c.435A>T (p.Glu145Asp) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001128258.9
Allele description [Variation Report for NM_000152.5(GAA):c.435A>T (p.Glu145Asp)]
NM_000152.5(GAA):c.435A>T (p.Glu145Asp)
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
-
B3GNT9 [Pogona vitticeps]
B3GNT9 [Pogona vitticeps]Gene ID:110085728Gene
-
LOC105199316 [Solenopsis invicta]
LOC105199316 [Solenopsis invicta]Gene ID:105199316Gene
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Last Updated: Sep 29, 2024