NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del) AND Retinal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 19, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001075401.2
Allele description [Variation Report for NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)]
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
Homo sapiens receptor transporter protein 4 (RTP4), mRNA
Homo sapiens receptor transporter protein 4 (RTP4), mRNAgi|1519313245|ref|NM_022147.3|Nucleotide
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Last Updated: Jun 23, 2024