chr1:94517254:C>G Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,517,254-94,517,254
hg38 chr1:94,051,698-94,051,698 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.2588G>C NP_000341.2:p.Gly863Ala
Ensemble ENST00000370225.4:c.2588G>C ENST00000370225.4:p.Gly863Ala
ENST00000649773.1:c.2366G>C ENST00000649773.1:p.Gly789Ala
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 Pathogenic Likely pathogenic low penetrance
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 COSM328066 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-01-31 criteria provided, multiple submitters, no conflicts Severe early-childhood-onset retinal dystrophy germline unknown Detail
Likely pathogenic 2015-10-23 criteria provided, single submitter cone-rod dystrophy 3 germline Detail
Pathogenic Likely pathogenic Pathogenic low penetrance 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic 2016-01-01 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
Pathogenic 2016-01-01 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
no classifications from unflagged records 2024-01-02 no classifications from unflagged records Peripheral neuropathy unknown Detail
Pathogenic 2019-08-09 criteria provided, single submitter Retinal dystrophy germline unknown Detail
Pathogenic 2014-09-11 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2022-08-24 criteria provided, multiple submitters, no conflicts Stargardt disease germline unknown Detail
Pathogenic 2021-04-01 criteria provided, single submitter retinitis pigmentosa germline inherited unknown Detail
Pathogenic 2018-04-01 no assertion criteria provided cone-rod dystrophy unknown Detail
Likely pathogenic 2021-10-04 no assertion criteria provided age related macular degeneration 2 germline unknown Detail
Likely pathogenic 2021-01-30 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
not provided no assertion provided retinitis pigmentosa 19,Age-related macular degeneration,cone-rod dystrophy 3 unknown Detail
not provided no assertion provided retinitis pigmentosa 19,Age-related macular degeneration,cone-rod dystrophy 3 unknown Detail
not provided no assertion provided retinitis pigmentosa 19,Age-related macular degeneration,cone-rod dystrophy 3 unknown Detail
Pathogenic 2023-03-07 criteria provided, single submitter retinitis pigmentosa 19 unknown Detail
Pathogenic 2024-01-18 criteria provided, single submitter ABCA4-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.442 STARGARDT DISEASE 1 (disorder) NA CLINVAR Detail
0.440 CONE-ROD DYSTROPHY 3 (disorder) NA CLINVAR Detail
0.442 STARGARDT DISEASE 1 (disorder) A novel mutation in the ABCR gene in four patients with autosomal recessive Star... UNIPROT 10612508 Detail
0.440 CONE-ROD DYSTROPHY 3 (disorder) A novel mutation in the ABCR gene in four patients with autosomal recessive Star... UNIPROT 10612508 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Cone-rod dystrophy 3 ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND not provided ClinVar Detail
NM_000350.2(ABCA4):c.[2588G>C;5153T>G] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.2(ABCA4):c.[2588G>C;3289A>T] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Inborn genetic diseases ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Stargardt disease ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Retinitis pigmentosa ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Cone-rod dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Age related macular degeneration 2 ClinVar Detail
NM_000350.3(ABCA4):c.[2588G>C;5603A>T] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Retinitis pigmentosa 19 ClinVar Detail
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND ABCA4-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. DisGeNET Detail
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. 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
rs76157638 dbSNP
Genome
hg19
Position
chr1:94,517,254-94,517,254
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8428
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)
118484
Allele Counts in All Race (ExAC)
601
Heterozygous Counts in All Race (ExAC)
597
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.00507241484082239
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