Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Pro1380Leu (p.P1380L)
(
ENST00000370225.4 )
ABCA4 p.Pro1380Leu (p.P1380L) ( ENST00000370225.4 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 22943
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.3917C>T
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.4139C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-01-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008362
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 16682602
- Pubmed
- 10396622
Drugs