NM_000152.5(GAA):c.711G>C (p.Ala237=) AND Glycogen storage disease, type II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002615552.2
Allele description [Variation Report for NM_000152.5(GAA):c.711G>C (p.Ala237=)]
NM_000152.5(GAA):c.711G>C (p.Ala237=)
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
-
centrosomal protein of 131 kDa isoform X6 [Homo sapiens]
centrosomal protein of 131 kDa isoform X6 [Homo sapiens]gi|2462554070|ref|XP_054171507.1|Protein
-
"PreventionGenetics, part of Exact Sciences"[submitter] AND "KCNJ... (3)
"PreventionGenetics, part of Exact Sciences"[submitter] AND "KCNJ8"[gene]SearchClinVar
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024