Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg1898His (p.R1898H)
(
ENST00000370225.4 )
ABCA4 p.Glu471Lys (p.E471K) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg1898His (p.R1898H) ( ENST00000370225.4 )
ABCA4 p.Glu471Lys (p.E471K) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- retinitis pigmentosa
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.[1411G>A;5693G>A] AND Retinitis pigmentosa
- ClinVar Allele ID
- 105287
- ClinVar Allele ID
- 104942
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.1411G>A
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5693G>A
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5471G>A
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.1411G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-06-23
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001002804
- ClinVar Disease
- Retinitis pigmentosa
- Observed Origin Sample
- inherited
Drugs