chr4:56315252:G>A Detail (hg38) (CRACD)

Information

Genome

Assembly Position
hg19 chr4:57,181,418-57,181,418 View the variant detail on this assembly version.
hg38 chr4:56,315,252-56,315,252

HGVS

Type Transcript Protein
RefSeq NM_020722.1:c.1750G>A NP_065773.1:p.Ala584Thr
Ensemble ENST00000264229.11:c.1750G>A ENST00000264229.11:p.Ala584Thr
ENST00000504228.6:c.1750G>A ENST00000504228.6:p.Ala584Thr
Summary

MGeND

Clinical significance not provided
Variant entry 1
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
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 618327 OMIM
HGNC 29219 HGNC
Ensembl ENSG00000109265 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided 2018/04/26 colon cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
-
Genome
hg38
Position
chr4:56,315,252-56,315,252
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
4930
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)
69714
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.7377284333132515E-5
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