NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002456483.2
Allele description [Variation Report for NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser)]
NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
polycomb protein SCMH1 isoform c [Homo sapiens]
polycomb protein SCMH1 isoform c [Homo sapiens]gi|288557331|ref|NP_001165689.1|Protein
-
Sprr2d small proline-rich protein 2D [Mus musculus]
Sprr2d small proline-rich protein 2D [Mus musculus]Gene ID:20758Gene
-
20758[uid] AND (alive[prop]) (1)
Gene
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Last Updated: May 1, 2024