Annotation Detail
Information
- Associated Genes
- USH2A
- Associated Variants
-
USH2A p.Ser5060Pro (p.S5060P)
(
ENST00000307340.8,
ENST00000674083.1 )
USH2A p.Ser5060Pro (p.S5060P) ( ENST00000307340.8, ENST00000674083.1 ) - Associated Disease
- retinitis pigmentosa 39
- Source Database
- ClinVar
- Description
- NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) AND Retinitis pigmentosa 39
- ClinVar Allele ID
- 540832
- ClinVar RefSeq Alternation Syntax
- NM_206933.4:c.15178T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-10-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003465473
- ClinVar Disease
- Retinitis pigmentosa 39
- Observed Origin Sample
- unknown
Drugs