NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln) AND PCK1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003926126.1
Allele description [Variation Report for NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln)]
NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln)
Condition(s)
- Name:
- PCK1-related disorder
- Synonyms:
- PCK1-related condition
- Identifiers:
-
1-acyl-sn-glycerol-3-phosphate acyltransferase delta [Mus musculus]
1-acyl-sn-glycerol-3-phosphate acyltransferase delta [Mus musculus]gi|27229064|ref|NP_080920.2|Protein
-
ENSONIP00000013466 (0)
Protein
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Last Updated: Aug 4, 2024