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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

IL12RB2

Type	Transcript	Protein
RefSeq	NM_001559.2:c.2337C>T	NP_001550.1:p.Pro779=
	NR_047583.1:c.2337C>T
	NR_047584.1:c.2337C>T
	NM_001258216.1:c.*238C>T
	NM_001258215.1:c.2079C>T	NP_001245144.1:p.Pro693=
Ensemble	ENST00000262345.5:c.2337C>T	ENST00000262345.5:p.Pro779=
	ENST00000541374.6:c.*238C>T
	ENST00000544434.5:c.2079C>T	ENST00000544434.5:p.Pro693=
	ENST00000648487.1:c.2337C>T	ENST00000648487.1:p.Pro779=
	ENST00000674203.2:c.2337C>T	ENST00000674203.2:p.Pro779=
	ENST00000696754.1:c.*238C>T
	ENST00000696755.1:c.*238C>T
	ENST00000696757.1:c.*257C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:<0.001
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Likely benign
Review star
Show details

Links

IL12RB2

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2023-11-10	criteria provided, single submitter	not provided	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

Descrption	Source	Links
NM_001374259.2(IL12RB2):c.2337C>T (p.Pro779=) AND not provided	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: -
Genome: hg38
Position: chr1:67,395,837-67,395,837
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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): 1
Allele Frequency (HGVD): 6.793478260869565E-4
Gene Symbol (HGVD): IL12RB2
East Asian Chromosome Counts (ExAC): 8618
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): 121268
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 0
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6492397004980703E-5

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