NM_206933.4(USH2A):c.12305T>A (p.Ile4102Asn) AND Retinal dystrophy
- Germline classification:
- Uncertain significance (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:
- RCV003890530.1
Allele description [Variation Report for NM_206933.4(USH2A):c.12305T>A (p.Ile4102Asn)]
NM_206933.4(USH2A):c.12305T>A (p.Ile4102Asn)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
Chloride channel core [Kangiella koreensis DSM 16069]
Chloride channel core [Kangiella koreensis DSM 16069]gi|256795171|gnl|jgi|Kkor_0407|gb|A 27.1|Protein
-
CASP8-associated protein 2 isoform X7 [Homo sapiens]
CASP8-associated protein 2 isoform X7 [Homo sapiens]gi|2462611657|ref|XP_054212896.1|Protein
-
Polydesmida cytochrome c oxidase subunit I (COI) gene, partial cds; mitochondria...
Polydesmida cytochrome c oxidase subunit I (COI) gene, partial cds; mitochondrial.PopSet: 822093746PopSet
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 23, 2024