NM_006017.3(PROM1):c.1142-1G>A AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002497313.2
Allele description [Variation Report for NM_006017.3(PROM1):c.1142-1G>A]
NM_006017.3(PROM1):c.1142-1G>A
Condition(s)
- Name:
- Stargardt disease 4 (STGD4)
- Identifiers:
- MONDO: MONDO:0011370; MedGen: C1863534; Orphanet: 827; OMIM: 603786
- Name:
- Retinitis pigmentosa 41 (RP41)
- Synonyms:
- RP 41; Retinal degeneration, autosomal recessive, prominin-related
- Identifiers:
- MONDO: MONDO:0012796; MedGen: C2677516; Orphanet: 791; OMIM: 612095
Assertion and evidence details
Last Updated: Oct 13, 2024