Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Glu1122Lys (p.E1122K)
(
ENST00000370225.4 )
ABCA4 p.Glu1122Lys (p.E1122K) ( ENST00000370225.4 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 39174
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.3142G>A
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.3364G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2015-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000023141
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 10746567
- Pubmed
- 10396622
Drugs