NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=) AND Progressive familial intrahepatic cholestasis type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001122636.4
Allele description [Variation Report for NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)]
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024