NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) AND Pigmentary retinal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000399933.5
Allele description [Variation Report for NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)]
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)
Condition(s)
- Name:
- Pigmentary retinal dystrophy
- Synonyms:
- Fundus albipunctatus
- Identifiers:
- MONDO: MONDO:0007639; MedGen: C0311338; Orphanet: 227796; Orphanet: 52427; OMIM: 136880; Human Phenotype Ontology: HP:0030642
Assertion and evidence details
Last Updated: Dec 24, 2023