chr1:94063250:A>G Detail (hg38) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,528,806-94,528,806 View the variant detail on this assembly version.
hg38 chr1:94,063,250-94,063,250

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.1622T>C NP_000341.2:p.Leu541Pro
Ensemble ENST00000370225.4:c.1622T>C ENST00000370225.4:p.Leu541Pro
ENST00000649773.1:c.1622T>C ENST00000649773.1:p.Leu541Pro
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
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 Likely pathogenic 2023-01-31 criteria provided, multiple submitters, no conflicts Severe early-childhood-onset retinal dystrophy germline unknown Detail
Likely pathogenic 2018-04-01 no assertion criteria provided retinitis pigmentosa unknown Detail
Pathogenic 2021-02-24 criteria provided, multiple submitters, no conflicts Retinal dystrophy germline unknown Detail
Pathogenic 2018-08-14 criteria provided, single submitter Stargardt disease germline inherited unknown Detail
Likely pathogenic 2021-11-22 criteria provided, single submitter unknown Detail
Pathogenic 2019-03-04 criteria provided, single submitter not specified germline Detail
Pathogenic 2018-11-23 criteria provided, single submitter age related macular degeneration 2 unknown Detail
Pathogenic 2005-10-01 no assertion criteria provided retinitis pigmentosa 19 germline Detail
Pathogenic 2024-01-16 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
Annotation

Annotations

DescrptionSourceLinks
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.1622T>C (p.Leu541Pro) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) AND Retinitis pigmentosa ClinVar Detail
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) AND Stargardt disease ClinVar Detail
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) AND Macular dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) AND not specified ClinVar Detail
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) AND Age related macular degeneration 2 ClinVar Detail
NM_000350.2(ABCA4):c.[1622T>C;3113C>T] AND Retinitis pigmentosa 19 ClinVar Detail
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) AND ABCA4-related disorder ClinVar Detail
NA DisGeNET Detail
NA 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
rs61751392 dbSNP
Genome
hg38
Position
chr1:94,063,250-94,063,250
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
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)
121412
Allele Counts in All Race (ExAC)
15
Heterozygous Counts in All Race (ExAC)
15
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.2354627219714692E-4
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