NM_000642.3(AGL):c.-82A>G AND Glycogen storage disease type III
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098374.4
Allele description [Variation Report for NM_000642.3(AGL):c.-82A>G]
NM_000642.3(AGL):c.-82A>G
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
-
Homo sapiens hippocalcin like 4 (HPCAL4), transcript variant 2, mRNA
Homo sapiens hippocalcin like 4 (HPCAL4), transcript variant 2, mRNAgi|1890266218|ref|NM_001282396.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023