NM_000642.3(AGL):c.1386A>C (p.Val462=) AND Glycogen storage disease type III
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001422434.7
Allele description [Variation Report for NM_000642.3(AGL):c.1386A>C (p.Val462=)]
NM_000642.3(AGL):c.1386A>C (p.Val462=)
Condition(s)
- Name:
- Glycogen storage disease type III (GSD3)
- Synonyms:
- Glycogen storage disease type 3; Forbes disease; Cori disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009291; MedGen: C0017922; Orphanet: 366; OMIM: 232400
-
alpha-1,4-N-acetylglucosaminyltransferase L homeolog precursor [Xenopus laevis]
alpha-1,4-N-acetylglucosaminyltransferase L homeolog precursor [Xenopus laevis]gi|148231077|ref|NP_001089625.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024