Annotation Detail

Information
Associated Genes
ABCA4
Associated Variants
ABCA4 c.1760+2T>G ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 c.1760+2T>G ( ENST00000370225.4, ENST00000649773.1 )
Associated Disease
Retinal dystrophy
Source Database
ClinVar
Description
NM_000350.3(ABCA4):c.1760+2T>G AND Retinal dystrophy
ClinVar Allele ID
104965
ClinVar RefSeq Alternation Syntax
NM_000350.3:c.1760+2T>G
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2023-10-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003888471
ClinVar Disease
Retinal dystrophy
Observed Origin Sample
germline
Drugs