NM_000214.3(JAG1):c.630T>C (p.Tyr210=) AND Alagille syndrome due to a JAG1 point mutation
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002876555.3
Allele description [Variation Report for NM_000214.3(JAG1):c.630T>C (p.Tyr210=)]
NM_000214.3(JAG1):c.630T>C (p.Tyr210=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024