NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter) AND Cholestasis, intrahepatic, of pregnancy, 3
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003931.1
Allele description [Variation Report for NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter)]
NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022