NM_000151.4(G6PC1):c.*1313A>G AND Glycogen storage disease, type I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000381845.5
Allele description [Variation Report for NM_000151.4(G6PC1):c.*1313A>G]
NM_000151.4(G6PC1):c.*1313A>G
Condition(s)
- Name:
- Glycogen storage disease, type I
- Identifiers:
- MONDO: MONDO:0002413; MedGen: C0017920
-
Nucleotide INSDC for Assembly (Select 46558338) (0)
Nucleotide
-
Concise Conserved Domain Links for Protein (Select 1370468378) (1)
Conserved Domains
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Last Updated: Apr 9, 2023