NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala) AND Progressive familial intrahepatic cholestasis type 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001164954.4
Allele description [Variation Report for NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala)]
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala)
Condition(s)
- Name:
- Progressive familial intrahepatic cholestasis type 3
- Synonyms:
- Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase; MDR3 deficiency; Low Gamma-GT Familial Intrahepatic Cholestasis
- Identifiers:
- MONDO: MONDO:0011214; MedGen: C1865643; Orphanet: 79305; OMIM: 602347
Assertion and evidence details
Last Updated: Apr 9, 2023