chr1:94021934:A>G Detail (hg38) (ABCA4, LOC126805793)

Information

Genome

Assembly Position
hg19 chr1:94,487,490-94,487,490 View the variant detail on this assembly version.
hg38 chr1:94,021,934-94,021,934

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.4685T>C NP_000341.2:p.Ile1562Thr
Ensemble ENST00000370225.4:c.4685T>C ENST00000370225.4:p.Ile1562Thr
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 tgv183086120 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-07-26 criteria provided, conflicting interpretations not provided germline not provided unknown Detail
Uncertain significance 2016-06-14 criteria provided, single submitter ABCA4-related disorder germline Detail
Uncertain significance 2016-06-14 criteria provided, single submitter Cone-Rod Dystrophy, Recessive germline Detail
Uncertain significance 2016-06-14 criteria provided, single submitter Retinitis Pigmentosa, Recessive germline Detail
Pathogenic 2016-01-01 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
Pathogenic 2023-10-01 criteria provided, multiple submitters, no conflicts Retinal dystrophy germline unknown Detail
Likely pathogenic 2018-04-01 no assertion criteria provided Stargardt disease unknown Detail
Likely pathogenic 2018-04-01 no assertion criteria provided cone-rod dystrophy unknown Detail
Uncertain significance 2018-12-03 criteria provided, single submitter cone-rod dystrophy 3 germline Detail
Likely pathogenic 2023-01-11 criteria provided, single submitter Stargardt disease,Severe early-childhood-onset retinal dystrophy germline Detail
Likely pathogenic 2023-01-11 criteria provided, single submitter Stargardt disease,Severe early-childhood-onset 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
0.440 CONE-ROD DYSTROPHY 3 (disorder) A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargar... UNIPROT 10958763 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND ABCA4-related disorder ClinVar Detail
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND Cone-Rod Dystrophy, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND Retinitis Pigmentosa, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND Stargardt disease ClinVar Detail
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND Cone-rod dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND Cone-rod dystrophy 3 ClinVar Detail
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND multiple conditions 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
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-r... 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
rs1762111 dbSNP
Genome
hg38
Position
chr1:94,021,934-94,021,934
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8638
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)
121114
Allele Counts in All Race (ExAC)
158
Heterozygous Counts in All Race (ExAC)
158
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0013045560381128524
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