NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=) 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:
- RCV003890283.1
Allele description [Variation Report for NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=)]
NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
PH and SEC7 domain-containing protein 4 [Homo sapiens]
PH and SEC7 domain-containing protein 4 [Homo sapiens]gi|56788370|ref|NP_036587.2|Protein
-
large ribosomal subunit protein mL43 isoform a [Homo sapiens]
large ribosomal subunit protein mL43 isoform a [Homo sapiens]gi|28872734|ref|NP_115488.2|Protein
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Last Updated: Jun 23, 2024