Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Asp1532Asn (p.D1532N)
(
ENST00000370225.4 )
ABCA4 p.Asp1532Asn (p.D1532N) ( ENST00000370225.4 ) - Associated Disease
- retinitis pigmentosa 19 cone-rod dystrophy 3 Age-related macular degeneration
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) AND multiple conditions
- ClinVar Allele ID
- 105193
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.4594G>A
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.4372G>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001535669
- ClinVar Disease
- Age-related macular degeneration
- ClinVar Disease
- Cone-rod dystrophy 3
- ClinVar Disease
- Retinitis pigmentosa 19
- Observed Origin Sample
- unknown
Drugs