NM_000539.3(RHO):c.403C>T (p.Arg135Trp) AND Retinal dystrophy
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Oct 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074272.4
Allele description [Variation Report for NM_000539.3(RHO):c.403C>T (p.Arg135Trp)]
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Scolopsis vosmeri]
cytochrome c oxidase subunit I, partial (mitochondrion) [Scolopsis vosmeri]gi|2645600803|gb|WRK27847.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024