NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) AND Retinal dystrophy
- Germline classification:
- 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:
- RCV003887882.1
Allele description [Variation Report for NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)]
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
Rattus norvegicus ER membrane protein complex subunit 6 (Emc6), mRNA
Rattus norvegicus ER membrane protein complex subunit 6 (Emc6), mRNAgi|1937912774|ref|NM_001105806.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024