NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe) AND Congenital stationary night blindness 1A
- Germline classification:
- Likely benign (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:
- RCV001166053.4
Allele description [Variation Report for NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe)]
NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe)
Condition(s)
- Name:
- Congenital stationary night blindness 1A
- Synonyms:
- CSNB, COMPLETE, X-LINKED; Night blindness, congenital stationary, type 1; Night blindness, congenital stationary, with myopia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010690; MedGen: C3495587; Orphanet: 215; OMIM: 310500
Assertion and evidence details
Last Updated: May 1, 2024