chr14:54957612:C>T Detail (hg38) (WDHD1)

Information

Genome

Assembly Position
hg19 chr14:55,424,330-55,424,330 View the variant detail on this assembly version.
hg38 chr14:54,957,612-54,957,612

HGVS

Type Transcript Protein
RefSeq NM_007086.3:c.2725G>A NP_009017.1:p.Gly909Arg
NM_001008396.2:c.2356G>A NP_001008397.1:p.Gly786Arg
Ensemble ENST00000360586.8:c.2725G>A ENST00000360586.8:p.Gly909Arg
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 608126 OMIM
HGNC 23170 HGNC
Ensembl ENSG00000198554 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
0.234 ulcerative colitis Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), ... BeFree 23709157 Detail
0.560 Crohn Disease Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), ... BeFree 23709157 Detail
Annotation

Annotations

DescrptionSourceLinks
Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.8... DisGeNET Detail
Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.8... 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
chr14:54,957,612-54,957,612
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8558
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)
119156
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)
8.392359595823962E-6
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