NM_000554.6(CRX):c.119G>A (p.Arg40Gln) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001857203.3
Allele description
NM_000554.6(CRX):c.119G>A (p.Arg40Gln)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024