chr4:107845794:C>A Detail (hg19) (DKK2)

Information

Genome

Assembly Position
hg19 chr4:107,845,794-107,845,794
hg38 chr4:106,924,637-106,924,637 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_014421.2:c.437G>T NP_055236.1:p.Arg146Leu
Ensemble ENST00000285311.8:c.437G>T ENST00000285311.8:p.Arg146Leu
ENST00000510463.1:c.299G>T ENST00000510463.1:p.Arg100Leu
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
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 605415 OMIM
HGNC 2892 HGNC
Ensembl ENSG00000155011 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Neoplasm Metastasis In addition, DKK3 rs1472189 cytosine/thymine (C/T) was associated with distant m... BeFree 19562778 Detail
0.003 renal cell carcinoma To the authors' knowledge, this is the first report documenting that DKK3 polymo... BeFree 19562778 Detail
0.003 renal cell carcinoma To the authors' knowledge, this is the first report documenting that DKK3 polymo... BeFree 19562778 Detail
0.003 renal cell carcinoma including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs170... BeFree 19562778 Detail
0.003 renal cell carcinoma including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs170... BeFree 19562778 Detail
Annotation

Annotations

DescrptionSourceLinks
In addition, DKK3 rs1472189 cytosine/thymine (C/T) was associated with distant metastasis, and, DKK2... DisGeNET Detail
To the authors' knowledge, this is the first report documenting that DKK3 polymorphisms are associat... DisGeNET Detail
To the authors' knowledge, this is the first report documenting that DKK3 polymorphisms are associat... DisGeNET Detail
including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs17037102], rs419558, an... DisGeNET Detail
including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs17037102], rs419558, an... 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
-
Genome
hg19
Position
chr4:107,845,794-107,845,794
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8628
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)
121344
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.241033755274261E-6
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