NM_000152.5(GAA):c.467C>A (p.Thr156Asn) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002030333.4
Allele description [Variation Report for NM_000152.5(GAA):c.467C>A (p.Thr156Asn)]
NM_000152.5(GAA):c.467C>A (p.Thr156Asn)
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
-
PGAP2 [Apteryx rowi]
PGAP2 [Apteryx rowi]Gene ID:112978635Gene
-
MPRV_s2gp1 [Micromonas pusilla reovirus]
MPRV_s2gp1 [Micromonas pusilla reovirus]Gene ID:5076664Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024