Annotation Detail
Information
- Associated Genes
- PHF3 EYS
- Associated Variants
-
EYS p.Tyr2956Ter (p.Y2956*), PHF3 c.*7518G>T
(
ENST00000503581.6,
ENST00000370621.7,
ENST00000262043.8 )
EYS p.Tyr2956Ter (p.Y2956*), PHF3 c.*7518G>T ( ENST00000262043.8, ENST00000370621.7, ENST00000503581.6 ) - Associated Disease
- retinitis pigmentosa
- Source Database
- ClinVar
- Description
- NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) AND Retinitis pigmentosa
- ClinVar Allele ID
- 152833
- ClinVar RefSeq Alternation Syntax
- NM_001290259.2:c.*7518G>T
- ClinVar RefSeq Alternation Syntax
- NM_001292009.2:c.8868C>A
- ClinVar RefSeq Alternation Syntax
- NM_001370350.2:c.*7518G>T
- ClinVar RefSeq Alternation Syntax
- NM_001370348.2:c.*7518G>T
- ClinVar RefSeq Alternation Syntax
- NM_001142800.2:c.8805C>A
- ClinVar RefSeq Alternation Syntax
- NM_015153.4:c.*7518G>T
- ClinVar RefSeq Alternation Syntax
- NM_001370349.2:c.*7518G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-12-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000132636
- ClinVar Disease
- Retinitis pigmentosa
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
Drugs