NM_000151.4(G6PC1):c.1066T>C (p.Ser356Pro) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002820983.3
Allele description [Variation Report for NM_000151.4(G6PC1):c.1066T>C (p.Ser356Pro)]
NM_000151.4(G6PC1):c.1066T>C (p.Ser356Pro)
Condition(s)
- Name:
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA (GSD1A)
- Synonyms:
- GSD Ia; Glycogen storage disease type 1A; Von Gierke disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009287; MedGen: C2919796; Orphanet: 364; Orphanet: 79258; OMIM: 232200
-
L1Md-Gf78 L1 repeat, Gf subfamily, member 78 [Mus musculus]
L1Md-Gf78 L1 repeat, Gf subfamily, member 78 [Mus musculus]Gene ID:246165Gene
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Last Updated: Sep 29, 2024