NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg) AND Cholestasis, intrahepatic, of pregnancy, 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003988735.2
Allele description [Variation Report for NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg)]
NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg)
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024