NM_019098.5(CNGB3):c.*291T>A AND Achromatopsia 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001162207.4
Allele description [Variation Report for NM_019098.5(CNGB3):c.*291T>A]
NM_019098.5(CNGB3):c.*291T>A
Condition(s)
- Name:
- Achromatopsia 3 (ACHM3)
- Synonyms:
- ROD MONOCHROMACY 1; ROD MONOCHROMATISM 1; Pingelapese blindness; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009875; MedGen: C1849792; Orphanet: 49382; OMIM: 262300
Assertion and evidence details
Last Updated: Jul 16, 2023