NM_000053.4(ATP7B):c.3560_3561del (p.Val1187fs) AND Wilson disease
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001914818.4
Allele description [Variation Report for NM_000053.4(ATP7B):c.3560_3561del (p.Val1187fs)]
NM_000053.4(ATP7B):c.3560_3561del (p.Val1187fs)
Condition(s)
-
inactive C-alpha-formylglycine-generating enzyme 2 isoform e precursor [Homo sap...
inactive C-alpha-formylglycine-generating enzyme 2 isoform e precursor [Homo sapiens]gi|1489866162|ref|NP_001123541.2|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024