chr1:94564355:G>A Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,564,355-94,564,355
hg38 chr1:94,098,799-94,098,799 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.763C>T NP_000341.2:p.Arg255Cys
Ensemble ENST00000649773.1:c.763C>T ENST00000649773.1:p.Arg255Cys
ENST00000370225.4:c.763C>T ENST00000370225.4:p.Arg255Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 tgv2424155 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic no assertion criteria provided cone-rod dystrophy 3 not provided Detail
Pathogenic 2024-01-09 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-10-01 criteria provided, single submitter Retinal dystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 CONE-ROD DYSTROPHY 3 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) AND Cone-rod dystrophy 3 ClinVar Detail
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) AND Retinal dystrophy ClinVar 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
rs62645952 dbSNP
Genome
hg19
Position
chr1:94,564,355-94,564,355
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs62645952
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0008
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
8
East Asian Heterozygous Counts (ExAC)
8
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
9.252833680314596E-4
Chromosome Counts in All Race (ExAC)
121236
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
12
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.898050084133426E-5
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