NM_000214.3(JAG1):c.1578C>T (p.Ile526=) AND Alagille syndrome due to a JAG1 point mutation
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000861803.7
Allele description [Variation Report for NM_000214.3(JAG1):c.1578C>T (p.Ile526=)]
NM_000214.3(JAG1):c.1578C>T (p.Ile526=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024