NM_000539.3(RHO):c.512C>T (p.Pro171Leu) 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:
- RCV001073649.3
Allele description [Variation Report for NM_000539.3(RHO):c.512C>T (p.Pro171Leu)]
NM_000539.3(RHO):c.512C>T (p.Pro171Leu)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
kelch domain containing 7B [Homo sapiens]
kelch domain containing 7B [Homo sapiens]gi|23821017|ref|NP_612442.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024