chr11:117994131:A>G Detail (hg38) (IL10RA)

Information

Genome

Assembly Position
hg19 chr11:117,864,846-117,864,846 View the variant detail on this assembly version.
hg38 chr11:117,994,131-117,994,131

HGVS

Type Transcript Protein
RefSeq NM_001558.3:c.670A>G NP_001549.2:p.Ile224Val
Ensemble ENST00000227752.8:c.670A>G ENST00000227752.8:p.Ile224Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.407
ToMMo:0.425
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.328

Prediction

ClinVar

Clinical Significance 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 tgv44194358 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts inflammatory bowel disease 28 germline Detail
Benign 2018-07-13 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.670A>G (p.Ile224Val) AND Inflammatory bowel disease 28 ClinVar Detail
NM_001558.4(IL10RA):c.670A>G (p.Ile224Val) 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
rs2228055 dbSNP
Genome
hg38
Position
chr11:117,994,131-117,994,131
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1201
Mean of sample read depth (HGVD)
39.76
Standard deviation of sample read depth (HGVD)
17.28
Number of reference allele (HGVD)
1424
Number of alternative allele (HGVD)
977
Allele Frequency (HGVD)
0.4069137859225323
Gene Symbol (HGVD)
IL10RA
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))
rs2228055
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4253
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7128
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8600
East Asian Allele Counts (ExAC)
2825
East Asian Heterozygous Counts (ExAC)
1915
East Asian Homozygous Counts (ExAC)
455
East Asian Allele Frequency (ExAC)
0.32848837209302323
Chromosome Counts in All Race (ExAC)
120866
Allele Counts in All Race (ExAC)
9764
Heterozygous Counts in All Race (ExAC)
8272
Homozygous Counts in All Race (ExAC)
746
Allele Frequency in All Race (ExAC)
0.08078367779193486
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