chr11:117999163:C>T Detail (hg38) (IL10RA)

Information

Genome

Assembly Position
hg19 chr11:117,869,878-117,869,878 View the variant detail on this assembly version.
hg38 chr11:117,999,163-117,999,163

HGVS

Type Transcript Protein
RefSeq NM_001558.3:c.1259C>T NP_001549.2:p.Ser420Leu
Ensemble ENST00000227752.8:c.1259C>T ENST00000227752.8:p.Ser420Leu
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 Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 146933 OMIM
HGNC 5964 HGNC
Ensembl ENSG00000110324 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44194592 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts inflammatory bowel disease 28 germline Detail
Likely benign 2019-01-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Cytomegalovirus retinitis In European Americans (n = 750), a haplotype carrying an amino acid changing var... BeFree 20617924 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001558.4(IL10RA):c.1259C>T (p.Ser420Leu) AND Inflammatory bowel disease 28 ClinVar Detail
NM_001558.4(IL10RA):c.1259C>T (p.Ser420Leu) AND not provided ClinVar Detail
In European Americans (n = 750), a haplotype carrying an amino acid changing variation in the cytopl... 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
-
dbSNP
rs2229114 dbSNP
Genome
hg38
Position
chr11:117,999,163-117,999,163
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
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)
121074
Allele Counts in All Race (ExAC)
3862
Heterozygous Counts in All Race (ExAC)
3698
Homozygous Counts in All Race (ExAC)
82
Allele Frequency in All Race (ExAC)
0.031897847597337166
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