chr12:12718165:T>C Detail (hg38) (CDKN1B)

Information

Genome

Assembly Position
hg19 chr12:12,871,099-12,871,099 View the variant detail on this assembly version.
hg38 chr12:12,718,165-12,718,165

HGVS

Type Transcript Protein
RefSeq NM_004064.4:c.326T>C NP_004055.1:p.Val109Ala
Ensemble ENST00000228872.9:c.326T>C ENST00000228872.9:p.Val109Ala
ENST00000396340.1:c.326T>C ENST00000396340.1:p.Val109Ala
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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 600778 OMIM
HGNC 1785 HGNC
Ensembl ENSG00000111276 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 2021-09-01 criteria provided, single submitter multiple endocrine neoplasia type 4 germline Detail
Likely benign 2024-02-23 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.016 Malignant neoplasm of ovary The aim of the present study was to evaluate the role of SNPs in three genes, XR... BeFree 23277402 Detail
0.003 ovarian carcinoma The aim of the present study was to evaluate the role of SNPs in three genes, XR... BeFree 23277402 Detail
0.007 Malignant neoplasm of ovary The aim of the present study was to evaluate the role of SNPs in three genes, XR... BeFree 23277402 Detail
0.002 ovarian carcinoma The aim of the present study was to evaluate the role of SNPs in three genes, XR... BeFree 23277402 Detail
0.002 ovarian carcinoma The aim of the present study was to evaluate the role of SNPs in three genes, XR... BeFree 23277402 Detail
0.014 Malignant neoplasm of ovary The aim of the present study was to evaluate the role of SNPs in three genes, XR... BeFree 23277402 Detail
0.017 Malignant neoplasm of prostate CDKN1B V109G polymorphism frequency and prostate cancer risk in Taiwan. BeFree 18645269 Detail
0.016 breast carcinoma Lack of association between cyclin-dependent kinase inhibitor 1B rs2066827 polym... BeFree 24523023 Detail
0.005 Medullary carcinoma of thyroid The rs2066827*GT+GG CDKN1B genotype was more frequent in s-MTC patients (62.22%)... BeFree 25565272 Detail
<0.001 Medullary carcinoma of thyroid CDKN1B V109G polymorphism a new prognostic factor in sporadic medullary thyroid ... BeFree 21177330 Detail
0.002 Medullary carcinoma of thyroid The rs2066827*GT+GG CDKN1B genotype was more frequent in s-MTC patients (62.22%)... BeFree 25565272 Detail
0.034 Malignant neoplasm of breast Lack of association between cyclin-dependent kinase inhibitor 1B rs2066827 polym... BeFree 24523023 Detail
0.010 prostate carcinoma CDKN1B V109G polymorphism frequency and prostate cancer risk in Taiwan. BeFree 18645269 Detail
0.006 Pancreatic Neoplasm CDKN1B also harbors single nucleotide polymorphisms; the T/G transversion at nuc... BeFree 21177330 Detail
0.011 Carcinogenesis Further studies, either with larger sample size or involving other SNPs and hapl... BeFree 24523023 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004064.5(CDKN1B):c.326T>C (p.Val109Ala) AND Multiple endocrine neoplasia type 4 ClinVar Detail
NM_004064.5(CDKN1B):c.326T>C (p.Val109Ala) AND Hereditary cancer-predisposing syndrome ClinVar Detail
The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... DisGeNET Detail
The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... DisGeNET Detail
The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... DisGeNET Detail
The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... DisGeNET Detail
The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... DisGeNET Detail
The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... DisGeNET Detail
CDKN1B V109G polymorphism frequency and prostate cancer risk in Taiwan. DisGeNET Detail
Lack of association between cyclin-dependent kinase inhibitor 1B rs2066827 polymorphism and breast c... DisGeNET Detail
The rs2066827*GT+GG CDKN1B genotype was more frequent in s-MTC patients (62.22%) than in controls (4... DisGeNET Detail
CDKN1B V109G polymorphism a new prognostic factor in sporadic medullary thyroid carcinoma. DisGeNET Detail
The rs2066827*GT+GG CDKN1B genotype was more frequent in s-MTC patients (62.22%) than in controls (4... DisGeNET Detail
Lack of association between cyclin-dependent kinase inhibitor 1B rs2066827 polymorphism and breast c... DisGeNET Detail
CDKN1B V109G polymorphism frequency and prostate cancer risk in Taiwan. DisGeNET Detail
CDKN1B also harbors single nucleotide polymorphisms; the T/G transversion at nucleotide 326 (the V10... DisGeNET Detail
Further studies, either with larger sample size or involving other SNPs and haplotypes of the cyclin... 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
rs2066827 dbSNP
Genome
hg38
Position
chr12:12,718,165-12,718,165
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8480
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)
118612
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6861700333861666E-5
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