NM_000214.3(JAG1):c.1859G>T (p.Gly620Val) AND Alagille syndrome due to a JAG1 point mutation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002210932.1
Allele description [Variation Report for NM_000214.3(JAG1):c.1859G>T (p.Gly620Val)]
NM_000214.3(JAG1):c.1859G>T (p.Gly620Val)
Condition(s)
Assertion and evidence details
Last Updated: Mar 30, 2024