NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) 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:
- RCV003887885.1
Allele description [Variation Report for NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)]
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
BB712433 RIKEN full-length enriched, 2 cells egg Mus musculus cDNA clone B020034...
BB712433 RIKEN full-length enriched, 2 cells egg Mus musculus cDNA clone B020034M19 3', mRNA sequencegi|16065602|gnl|dbEST|9771506|dbj|B 33.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024