NM_002591.4(PCK1):c.864C>G (p.Cys288Trp) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002787655.2
Allele description [Variation Report for NM_002591.4(PCK1):c.864C>G (p.Cys288Trp)]
NM_002591.4(PCK1):c.864C>G (p.Cys288Trp)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
BioProject Links for Protein (Select 351715247) (1)
BioProject
-
Heterocephalus glaber
Heterocephalus glaberHeterocephalus glaber genome sequencingBioProject
-
Mus musculus strain C57BL/6J chromosome 14, GRCm39
Mus musculus strain C57BL/6J chromosome 14, GRCm39gi|1877089955|gnl|ASM:GCF_000000055 ef|NC_000080.7||gpp|GPC_000007826.1||gnl|NCBI_GENOMES|82Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024