chr1:94047039:T>A Detail (hg38) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,512,595-94,512,595 View the variant detail on this assembly version.
hg38 chr1:94,047,039-94,047,039

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.2798A>T NP_000341.2:p.Asn933Ile
Ensemble ENST00000370225.4:c.2798A>T ENST00000370225.4:p.Asn933Ile
ENST00000649773.1:c.2576A>T ENST00000649773.1:p.Asn859Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 tgv2422412 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic no assertion criteria provided Severe early-childhood-onset retinal dystrophy not provided 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.2798A>T (p.Asn933Ile) AND Severe early-childhood-onset retinal dystrophy 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
rs527236129 dbSNP
Genome
hg38
Position
chr1:94,047,039-94,047,039
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser