NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) AND Alagille syndrome due to a JAG1 point mutation
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000863087.8
Allele description [Variation Report for NM_000214.3(JAG1):c.3555C>T (p.Pro1185=)]
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 30, 2024