chr1:67395837:C>A Detail (hg38) (IL12RB2)

Information

Genome

Assembly Position
hg19 chr1:67,861,520-67,861,520 View the variant detail on this assembly version.
hg38 chr1:67,395,837-67,395,837

HGVS

Type Transcript Protein
RefSeq NM_001559.2:c.2337C>A NP_001550.1:p.Pro779=
NR_047583.1:c.2337C>A
NR_047584.1:c.2337C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.391
ToMMo:0.403
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.371

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601642 OMIM
HGNC 5972 HGNC
Ensembl ENSG00000081985 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1862361 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, single submitter not provided germline Detail
Benign 2023-11-12 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 cervical squamous cell carcinoma Cervical SCC risk was associated with the minor alleles of the IL10RA rs9610 3' ... BeFree 23280621 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001374259.2(IL12RB2):c.2337C>A (p.Pro779=) AND not provided ClinVar Detail
NM_001374259.2(IL12RB2):c.2337C>A (p.Pro779=) AND not specified ClinVar Detail
Cervical SCC risk was associated with the minor alleles of the IL10RA rs9610 3' UTR SNP (OR=1.76, 95... 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
rs2229546 dbSNP
Genome
hg38
Position
chr1:67,395,837-67,395,837
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
188.88
Standard deviation of sample read depth (HGVD)
83.80
Number of reference allele (HGVD)
1471
Number of alternative allele (HGVD)
943
Allele Frequency (HGVD)
0.39063794531897267
Gene Symbol (HGVD)
IL12RB2
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))
rs2229546
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4026
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6747
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8618
East Asian Allele Counts (ExAC)
3198
East Asian Heterozygous Counts (ExAC)
2044
East Asian Homozygous Counts (ExAC)
577
East Asian Allele Frequency (ExAC)
0.3710837781387793
Chromosome Counts in All Race (ExAC)
121268
Allele Counts in All Race (ExAC)
76482
Heterozygous Counts in All Race (ExAC)
27150
Homozygous Counts in All Race (ExAC)
24665
Allele Frequency in All Race (ExAC)
0.6306857538674671
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