chr1:94473287:G>A Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,473,287-94,473,287
hg38 chr1:94,007,731-94,007,731 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.5908C>T NP_000341.2:p.Leu1970Phe
Ensemble ENST00000370225.4:c.5908C>T ENST00000370225.4:p.Leu1970Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 1998-05-01 no assertion criteria provided Stargardt disease germline Detail
Conflicting interpretations of pathogenicity 2024-01-31 criteria provided, conflicting interpretations not provided germline not provided Detail
Likely benign 2018-06-22 criteria provided, single submitter not specified germline Detail
Conflicting interpretations of pathogenicity 2021-08-27 criteria provided, conflicting interpretations Severe early-childhood-onset retinal dystrophy germline maternal Detail
Uncertain significance 2022-12-09 criteria provided, multiple submitters, no conflicts ABCA4-related disorder germline Detail
Pathogenic 2018-04-01 no assertion criteria provided unknown Detail
Uncertain significance 2018-08-30 criteria provided, single submitter Retinal dystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.442 STARGARDT DISEASE 1 (disorder) We have studied 144 patients with STGD and 220 unaffected individuals ascertaine... UNIPROT 10958763 Detail
0.360 Macular Degeneration, Age-Related, 2 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargar... UNIPROT 10958763 Detail
0.247 Stargardt's disease NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) AND Stargardt disease ClinVar Detail
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) AND not specified ClinVar Detail
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) AND ABCA4-related disorder ClinVar Detail
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) AND Vitreoretinopathy ClinVar Detail
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) AND Retinal dystrophy ClinVar Detail
We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German po... DisGeNET Detail
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-r... DisGeNET 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
rs28938473 dbSNP
Genome
hg19
Position
chr1:94,473,287-94,473,287
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8616
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120336
Allele Counts in All Race (ExAC)
352
Heterozygous Counts in All Race (ExAC)
350
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0029251429331205955
Genome browser