chr1:94476377:C>T Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,476,377-94,476,377
hg38 chr1:94,010,821-94,010,821 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.5693G>A NP_000341.2:p.Arg1898His
Ensemble ENST00000370225.4:c.5693G>A ENST00000370225.4:p.Arg1898His
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
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations not provided germline not provided unknown Detail
Pathogenic Likely pathogenic 2023-01-31 criteria provided, multiple submitters, no conflicts Severe early-childhood-onset retinal dystrophy germline unknown Detail
Uncertain significance 2014-10-14 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2018-09-18 criteria provided, single submitter ABCA4-related disorder germline Detail
Likely pathogenic 2018-04-01 no assertion criteria provided Stargardt disease unknown Detail
Likely pathogenic 2018-04-01 no assertion criteria provided retinitis pigmentosa unknown Detail
Likely pathogenic 2019-06-23 no assertion criteria provided retinitis pigmentosa inherited Detail
Uncertain significance 2018-02-14 criteria provided, single submitter Retinal dystrophy germline Detail
Uncertain significance 2019-04-09 criteria provided, single submitter age related macular degeneration 2 unknown Detail
Conflicting interpretations of pathogenicity 2023-03-28 criteria provided, conflicting interpretations cone-rod dystrophy 3 germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.442 STARGARDT DISEASE 1 (disorder) Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibri... UNIPROT 10746567 Detail
0.360 Macular Degeneration, Age-Related, 2 Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibri... UNIPROT 10746567 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) AND Inborn genetic diseases ClinVar Detail
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) AND ABCA4-related disorder ClinVar Detail
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) AND Stargardt disease ClinVar Detail
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) AND Retinitis pigmentosa ClinVar Detail
NM_000350.3(ABCA4):c.[1411G>A;5693G>A] AND Retinitis pigmentosa ClinVar Detail
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) AND Age related macular degeneration 2 ClinVar Detail
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) AND Cone-rod dystrophy 3 ClinVar Detail
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles,... DisGeNET Detail
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles,... 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
rs1800552 dbSNP
Genome
hg19
Position
chr1:94,476,377-94,476,377
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8646
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)
121058
Allele Counts in All Race (ExAC)
216
Heterozygous Counts in All Race (ExAC)
214
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0017842686976490608
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