Annotation Detail
Information
- Associated Genes
- USH2A
- Associated Variants
-
USH2A p.Arg737Ter (p.R737*)
(
ENST00000674083.1,
ENST00000307340.8,
ENST00000366942.3 )
USH2A p.Arg737Ter (p.R737*) ( ENST00000307340.8, ENST00000366942.3, ENST00000674083.1 ) - Associated Disease
- Usher syndrome type 2
- Source Database
- ClinVar
- Description
- NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) AND Usher syndrome type 2
- ClinVar Allele ID
- 17400
- ClinVar RefSeq Alternation Syntax
- NM_007123.6:c.2209C>T
- ClinVar RefSeq Alternation Syntax
- NM_206933.4:c.2209C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-06-23
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001003279
- ClinVar Disease
- Usher syndrome type 2
- Observed Origin Sample
- inherited
Drugs