chr1:67182950:A>G Detail (hg38) (IL23R, C1orf141)

Information

Genome

Assembly Position
hg19 chr1:67,648,633-67,648,633 View the variant detail on this assembly version.
hg38 chr1:67,182,950-67,182,950

HGVS

Type Transcript Protein
RefSeq NM_001276351.1:c.-104+48896T>C
Ensemble ENST00000371007.6:c.-104+48896T>C
Type Transcript Protein
RefSeq NM_144701.2:c.482A>G NP_653302.2:p.His161Arg
Ensemble ENST00000347310.10:c.482A>G ENST00000347310.10:p.His161Arg
ENST00000697154.1:c.482A>G ENST00000697154.1:p.His161Arg
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 Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC 32044 HGNC
Ensembl ENSG00000203963 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 607562 OMIM
HGNC 19100 HGNC
Ensembl ENSG00000162594 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
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-10-20 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.327 ulcerative colitis Given the association of IL23R with inflammatory bowel disease (IBD), we charact... BeFree 18088064 Detail
0.371 Crohn Disease Given the association of IL23R with inflammatory bowel disease (IBD), we charact... BeFree 18088064 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_144701.3(IL23R):c.482A>G (p.His161Arg) AND not provided ClinVar Detail
Given the association of IL23R with inflammatory bowel disease (IBD), we characterized the role of I... DisGeNET Detail
Given the association of IL23R with inflammatory bowel disease (IBD), we characterized the role of I... 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
chr1:67,182,950-67,182,950
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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)
121256
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)
3.298805832288711E-5
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