chr1:94042767:G>A Detail (hg38) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,508,323-94,508,323 View the variant detail on this assembly version.
hg38 chr1:94,042,767-94,042,767

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.3322C>T NP_000341.2:p.Arg1108Cys
Ensemble ENST00000370225.4:c.3322C>T ENST00000370225.4:p.Arg1108Cys
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
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 tgv300149690 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic Likely pathogenic 2021-10-05 criteria provided, multiple submitters, no conflicts Severe early-childhood-onset retinal dystrophy germline maternal unknown Detail
Pathogenic 2019-06-23 no assertion criteria provided Stargardt disease inherited Detail
Pathogenic 2019-08-16 criteria provided, single submitter Retinal dystrophy germline Detail
Likely pathogenic 2016-01-01 criteria provided, single submitter age related macular degeneration 2 unknown Detail
Likely pathogenic 2021-01-30 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
Pathogenic 2021-12-07 criteria provided, single submitter cone-rod dystrophy 3,Severe early-childhood-onset retinal dystrophy,retinitis pigmentosa 19,age related macular degeneration 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter cone-rod dystrophy 3,Severe early-childhood-onset retinal dystrophy,retinitis pigmentosa 19,age related macular degeneration 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter cone-rod dystrophy 3,Severe early-childhood-onset retinal dystrophy,retinitis pigmentosa 19,age related macular degeneration 2 unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter cone-rod dystrophy 3,Severe early-childhood-onset retinal dystrophy,retinitis pigmentosa 19,age related macular degeneration 2 unknown Detail
Pathogenic 2023-11-10 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
0.442 STARGARDT DISEASE 1 (disorder) Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from diff... UNIPROT 10206579 Detail
0.002 cystic fibrosis Here, we have examined two disease-causing mutations in the NBD1 region of ABCA4... BeFree 26092729 Detail
0.800 cystic fibrosis Here, we have examined two disease-causing mutations in the NBD1 region of ABCA4... BeFree 26092729 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) AND Stargardt disease ClinVar Detail
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) AND Age related macular degeneration 2 ClinVar Detail
NM_000350.3(ABCA4):c.[3322C>T;6320G>A] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) AND ABCA4-related disorder ClinVar Detail
NA DisGeNET Detail
Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were... DisGeNET Detail
Here, we have examined two disease-causing mutations in the NBD1 region of ABCA4, R1108C, and R1129C... DisGeNET Detail
Here, we have examined two disease-causing mutations in the NBD1 region of ABCA4, R1108C, and R1129C... 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
rs61750120 dbSNP
Genome
hg38
Position
chr1:94,042,767-94,042,767
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8642
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)
121282
Allele Counts in All Race (ExAC)
14
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.154334526145677E-4
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