NM_000642.3(AGL):c.3778A>T (p.Met1260Leu) AND Glycogen storage disease type III
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002039000.6
Allele description [Variation Report for NM_000642.3(AGL):c.3778A>T (p.Met1260Leu)]
NM_000642.3(AGL):c.3778A>T (p.Met1260Leu)
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
-
RecName: Full=Protein disulfide-isomerase-like protein of the testis; Flags: Pre...
RecName: Full=Protein disulfide-isomerase-like protein of the testis; Flags: Precursorgi|172045780|sp|Q8N807.2|PDILT_HUMAProtein
-
IMPA2 [Equus asinus]
IMPA2 [Equus asinus]Gene ID:106823410Gene
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Last Updated: Sep 29, 2024