NM_004817.3(TJP2):c.1992-2A>G AND Progressive familial intrahepatic cholestasis 4
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Oct 22, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000128573.3
Assertion and evidence details
Last Updated: Sep 6, 2017