Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Leu2027Phe (p.L2027F)
(
ENST00000370225.4 )
ABCA4 p.Leu2027Phe (p.L2027F) ( ENST00000370225.4 ) - Associated Disease
- cone-rod dystrophy 3 age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy retinitis pigmentosa 19
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) AND multiple conditions
- ClinVar Allele ID
- 22921
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.6079C>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5857C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763438
- ClinVar Disease
- Age related macular degeneration 2
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- ClinVar Disease
- Cone-rod dystrophy 3
- ClinVar Disease
- Retinitis pigmentosa 19
- Observed Origin Sample
- unknown
Drugs