chr3:154301098:G>C Detail (hg38) (DHX36)

Information

Genome

Assembly Position
hg19 chr3:154,018,887-154,018,887 View the variant detail on this assembly version.
hg38 chr3:154,301,098-154,301,098

HGVS

Type Transcript Protein
RefSeq NM_001114397.1:c.1247C>G NP_001107869.1:p.Ser416Cys
NM_020865.2:c.1247C>G NP_065916.2:p.Ser416Cys
Ensemble ENST00000308361.10:c.1247C>G ENST00000308361.10:p.Ser416Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.542
ToMMo:0.538
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.463

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 612767 OMIM
HGNC 14410 HGNC
Ensembl ENSG00000174953 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv14737817 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
0.007 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.002 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.082 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.160 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
Annotation

Annotations

DescrptionSourceLinks
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... 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
hg38
Position
chr3:154,301,098-154,301,098
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1202
Mean of sample read depth (HGVD)
151.99
Standard deviation of sample read depth (HGVD)
64.97
Number of reference allele (HGVD)
1100
Number of alternative allele (HGVD)
1303
Allele Frequency (HGVD)
0.5422388680815647
Gene Symbol (HGVD)
DHX36
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))
rs9438
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5375
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9009
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
4000
East Asian Heterozygous Counts (ExAC)
2134
East Asian Homozygous Counts (ExAC)
933
East Asian Allele Frequency (ExAC)
0.4628558204119417
Chromosome Counts in All Race (ExAC)
121156
Allele Counts in All Race (ExAC)
48680
Heterozygous Counts in All Race (ExAC)
28724
Homozygous Counts in All Race (ExAC)
9978
Allele Frequency in All Race (ExAC)
0.4017960315626135
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