NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002496810.2
Allele description [Variation Report for NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)]
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
Condition(s)
- Name:
- X-linked cone-rod dystrophy 1 (CORDX1)
- Identifiers:
- MONDO: MONDO:0010566; MedGen: C1844776; Orphanet: 1872; OMIM: 304020
- Name:
- Retinitis pigmentosa 3
- Synonyms:
- Cone-rod degeneration X-linked; Choroidoretinal degeneration with retinal reflex in heterozygous women; Retinitis pigmentosa 15
- Identifiers:
- MONDO: MONDO:0010227; MedGen: C1845667; Orphanet: 791; OMIM: 300029
Assertion and evidence details
Last Updated: Sep 29, 2024