NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg) AND Retinal dystrophy
- Germline classification:
- Likely benign (1 submission)
- 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:
- RCV003890082.1
Allele description [Variation Report for NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg)]
NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), transcript var...
Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), transcript variant 1, mRNAgi|1519241883|ref|NM_198481.4|Nucleotide
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Last Updated: Sep 29, 2024