Annotation Detail

Information
Associated Genes
ABCA4
Associated Variants
ABCA4 p.His1838Asp (p.H1838D) ( ENST00000370225.4 )
ABCA4 p.His1838Asp (p.H1838D) ( ENST00000370225.4 )
Associated Disease
Severe early-childhood-onset retinal dystrophy
Source Database
ClinVar
Description
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) AND Severe early-childhood-onset retinal dystrophy
ClinVar Allele ID
105269
ClinVar RefSeq Alternation Syntax
NM_000350.3:c.5512C>G
ClinVar RefSeq Alternation Syntax
NM_001425324.1:c.5290C>G
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2016-01-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000408577
ClinVar Disease
Severe early-childhood-onset retinal dystrophy
Observed Origin Sample
germline
Drugs