Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Ala1038Val (p.A1038V)
(
ENST00000370225.4 )
ABCA4 p.Leu541Pro (p.L541P) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Ala1038Val (p.A1038V) ( ENST00000370225.4 )
ABCA4 p.Leu541Pro (p.L541P) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- cone-rod dystrophy 3
- Source Database
- ClinVar
- Description
- NM_000350.2(ABCA4):c.[1622T>C;3113C>T] AND Cone-rod dystrophy 3
- ClinVar Allele ID
- 22933
- ClinVar Allele ID
- 22940
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.1622T>C
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.3113C>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.2891C>T
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.1622T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008359
- ClinVar Disease
- Cone-rod dystrophy 3
- Observed Origin Sample
- germline
- Pubmed
- 10958763
- Pubmed
- 12796258
- Pubmed
- 16103129
- Pubmed
- 10958761
Drugs