NM_000329.2(RPE65):c.1244C>T (p.Ala415Val) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000483168.1
Allele description
NM_000329.2(RPE65):c.1244C>T (p.Ala415Val)
Condition(s)
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Mar 31, 2019