NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr) AND Progressive familial intrahepatic cholestasis type 1
- 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:
- RCV000335042.5
Allele description [Variation Report for NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr)]
NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024