Annotation Detail
Information
- Associated Genes
- PHF3 EYS
- Associated Variants
-
EYS p.Ile3091Thr (p.I3091T), PHF3 c.*7114A>G
(
ENST00000370621.7,
ENST00000503581.6,
ENST00000262043.8 )
EYS p.Ile3091Thr (p.I3091T), PHF3 c.*7114A>G ( ENST00000262043.8, ENST00000370621.7, ENST00000503581.6 ) - Associated Disease
- Retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) AND Retinal dystrophy
- ClinVar Disease
- Retinal dystrophy
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 152834
- ClinVar RefSeq Alternation Syntax
- NM_015153.4:c.*7114A>G
- ClinVar RefSeq Alternation Syntax
- NM_001370348.2:c.*7114A>G
- ClinVar RefSeq Alternation Syntax
- NM_001292009.2:c.9272T>C
- ClinVar RefSeq Alternation Syntax
- NM_001142800.2:c.9209T>C
- ClinVar RefSeq Alternation Syntax
- NM_001370350.2:c.*7114A>G
- ClinVar RefSeq Alternation Syntax
- NM_001290259.2:c.*7114A>G
- ClinVar RefSeq Alternation Syntax
- NM_001370349.2:c.*7114A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-10-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003888558
Drugs