chr1:94508356:T>A Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,508,356-94,508,356
hg38 chr1:94,042,800-94,042,800 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.3289A>T NP_000341.2:p.Arg1097Ter
Ensemble ENST00000370225.4:c.3289A>T ENST00000370225.4:p.Arg1097Ter
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-01-01 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
Pathogenic 2022-08-24 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000350.2(ABCA4):c.[2588G>C;3289A>T] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.3289A>T (p.Arg1097Ter) AND not provided ClinVar 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
rs886044731 dbSNP
Genome
hg19
Position
chr1:94,508,356-94,508,356
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser