Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Ser206= (p.S206=)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.Ser206= (p.S206=) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- ABCA4-related disorder
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.618C>T (p.Ser206=) AND ABCA4-related disorder
- ClinVar Allele ID
- 365257
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.618C>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.618C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001098369
- ClinVar Disease
- ABCA4-related disorder
- Observed Origin Sample
- germline
Drugs