chr1:94508969:G>A Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,508,969-94,508,969
hg38 chr1:94,043,413-94,043,413 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.3113C>T NP_000341.2:p.Ala1038Val
Ensemble ENST00000370225.4:c.3113C>T ENST00000370225.4:p.Ala1038Val
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-01-31 criteria provided, multiple submitters, no conflicts Severe early-childhood-onset retinal dystrophy germline unknown Detail
Pathogenic 2019-01-01 criteria provided, single submitter cone-rod dystrophy 3 germline unknown Detail
Likely pathogenic 2021-01-30 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
Pathogenic 2005-10-01 no assertion criteria provided cone-rod dystrophy 3 germline Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic 2021-02-25 criteria provided, multiple submitters, no conflicts Retinal dystrophy germline unknown Detail
Pathogenic 2021-12-18 criteria provided, single submitter retinitis pigmentosa 19,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy,cone-rod dystrophy 3 unknown Detail
Pathogenic 2021-12-18 criteria provided, single submitter retinitis pigmentosa 19,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy,cone-rod dystrophy 3 unknown Detail
Pathogenic 2021-12-18 criteria provided, single submitter retinitis pigmentosa 19,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy,cone-rod dystrophy 3 unknown Detail
Pathogenic 2021-12-18 criteria provided, single submitter retinitis pigmentosa 19,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy,cone-rod dystrophy 3 unknown Detail
Pathogenic 2024-01-16 criteria provided, multiple submitters, no conflicts ABCA4-related disorder germline Detail
Likely pathogenic 2024-02-21 criteria provided, single submitter Stargardt disease germline inherited unknown Detail
Pathogenic 2018-04-01 no assertion criteria provided retinitis pigmentosa unknown Detail
Likely pathogenic 2021-11-22 criteria provided, single submitter unknown Detail
Likely pathogenic 2019-03-04 criteria provided, single submitter not specified germline Detail
Pathogenic 2022-05-04 criteria provided, multiple submitters, no conflicts age related macular degeneration 2 germline unknown Detail
Pathogenic 2005-10-01 no assertion criteria provided retinitis pigmentosa 19 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) Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from diff... UNIPROT 10206579 Detail
0.440 CONE-ROD DYSTROPHY 3 (disorder) Variation of clinical expression in patients with Stargardt dystrophy and sequen... UNIPROT 10206579 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND Cone-rod dystrophy 3 ClinVar Detail
NM_000350.2(ABCA4):c.[1622T>C;3113C>T] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.2(ABCA4):c.[1622T>C;3113C>T] AND Cone-rod dystrophy 3 ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND ABCA4-related disorder ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND Stargardt disease ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND Retinitis pigmentosa ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND Macular dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND not specified ClinVar Detail
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND Age related macular degeneration 2 ClinVar Detail
NM_000350.2(ABCA4):c.[1622T>C;3113C>T] AND Retinitis pigmentosa 19 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were... DisGeNET Detail
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the... 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
rs61751374 dbSNP
Genome
hg19
Position
chr1:94,508,969-94,508,969
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
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)
121304
Allele Counts in All Race (ExAC)
173
Heterozygous Counts in All Race (ExAC)
173
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0014261689639253445
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