Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Asp2177Asn (p.D2177N)
(
ENST00000370225.4 )
ABCA4 p.Asp2177Asn (p.D2177N) ( ENST00000370225.4 ) - Associated Disease
- Cone-Rod Dystrophy, Recessive
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) AND Cone-Rod Dystrophy, Recessive
- ClinVar Allele ID
- 22924
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.6307G>A
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.6529G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000323169
- ClinVar Disease
- Cone-Rod Dystrophy, Recessive
- Observed Origin Sample
- germline
Drugs