NM_000053.4(ATP7B):c.1174del (p.Val392fs) AND Wilson disease
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001961858.4
Allele description [Variation Report for NM_000053.4(ATP7B):c.1174del (p.Val392fs)]
NM_000053.4(ATP7B):c.1174del (p.Val392fs)
Condition(s)
-
TPA: Homo sapiens microRNA hsa-mir-549a precursor
TPA: Homo sapiens microRNA hsa-mir-549a precursorgi|667476097|tpe|LM609598.1|Nucleotide
-
Cyp3a41a cytochrome P450, family 3, subfamily a, polypeptide 41A [Mus musculus]
Cyp3a41a cytochrome P450, family 3, subfamily a, polypeptide 41A [Mus musculus]Gene ID:53973Gene
-
53973[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024