chr1:94043443:G>A Detail (hg38) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,508,999-94,508,999 View the variant detail on this assembly version.
hg38 chr1:94,043,443-94,043,443

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.3083C>T NP_000341.2:p.Ala1028Val
Ensemble ENST00000370225.4:c.3083C>T ENST00000370225.4:p.Ala1028Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 601691 OMIM
HGNC 34 HGNC
Ensembl ENSG00000198691 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-12-29 no assertion criteria provided Severe early-childhood-onset retinal dystrophy germline Detail
Uncertain significance 2022-10-17 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.442 STARGARDT DISEASE 1 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val) AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121909204 dbSNP
Genome
hg38
Position
chr1:94,043,443-94,043,443
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser