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
Severe early-childhood-onset retinal dystrophy
Source Database
ClinVar
Description
NM_000350.2(ABCA4):c.[1622T>C;3113C>T] AND Severe early-childhood-onset retinal dystrophy
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
Likely pathogenic
Clinical Significance Last Update
2021-01-30
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000008358
ClinVar Disease
Severe early-childhood-onset retinal dystrophy
Observed Origin Sample
germline
Pubmed
10958763
Pubmed
12796258
Pubmed
16103129
Pubmed
10958761
Drugs