chr6:36651971:C>A Detail (hg19) (CDKN1A)

Information

Genome

Assembly Position
hg19 chr6:36,651,971-36,651,971
hg38 chr6:36,684,194-36,684,194 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000389.4:c.93C>A NP_000380.1:p.Ser31Arg
NM_001220778.1:c.93C>A NP_001207707.1:p.Ser31Arg
NM_001291549.1:c.93C>A NP_001278478.1:p.Ser31Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.493
ToMMo:0.481
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.484

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 116899 OMIM
HGNC 1784 HGNC
Ensembl ENSG00000124762 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24981007 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 1996-07-01 no assertion criteria provided CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Carcinoma of lung We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pr... BeFree 17059853 Detail
0.150 renal cell carcinoma Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant asso... BeFree 17634539 Detail
0.163 lymphoma Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and... BeFree 15291355 Detail
0.004 lymphoma Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and... BeFree 15291355 Detail
<0.001 Malignant neoplasm of lung We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pr... BeFree 17059853 Detail
0.007 lymphoma Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and... BeFree 15291355 Detail
0.004 Squamous cell carcinoma of lung Elevated risk of squamous-cell carcinoma of the lung in heavy smokers carrying t... BeFree 17059853 Detail
0.157 Leukemia, Myelocytic, Acute We suggest that SNPs in the P53 pathway, especially the P21 ser31arg polymorphis... BeFree 23167335 Detail
0.012 Leukemia, Myelocytic, Acute MDM2 T309G has a synergistic effect with P21 ser31arg single nucleotide polymorp... BeFree 23167335 Detail
<0.001 Malignant neoplasm of endometrium An association between endometrial cancer and the polymorphism at codon 31 (AGC/... BeFree 15099969 Detail
0.001 colorectal carcinoma Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal c... BeFree 20363991 Detail
<0.001 squamous cell carcinoma The results for the p21 Ser31Arg polymorphism suggested that 31Ser is a moderate... BeFree 17059853 Detail
<0.001 cervix carcinoma The AGT haplotype (which includes the rs1801270A allele) was the most frequent h... BeFree 23231583 Detail
<0.001 endometrial carcinoma An association between endometrial cancer and the polymorphism at codon 31 (AGC/... BeFree 15099969 Detail
<0.001 uterine corpus cancer An association between endometrial cancer and the polymorphism at codon 31 (AGC/... BeFree 15099969 Detail
<0.001 Malignant tumor of cervix The AGT haplotype (which includes the rs1801270A allele) was the most frequent h... BeFree 23231583 Detail
0.001 colorectal cancer Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal c... BeFree 20363991 Detail
<0.001 cervix carcinoma The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs105... BeFree 23231583 Detail
<0.001 Malignant tumor of cervix The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs105... BeFree 23231583 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000389.5(CDKN1A):c.93C>A (p.Ser31Arg) AND CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1 ClinVar Detail
We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pro) and p21/CDKN1A (S... DisGeNET Detail
Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC. DisGeNET Detail
Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and the risk of non-Hod... DisGeNET Detail
Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and the risk of non-Hod... DisGeNET Detail
We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pro) and p21/CDKN1A (S... DisGeNET Detail
Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and the risk of non-Hod... DisGeNET Detail
Elevated risk of squamous-cell carcinoma of the lung in heavy smokers carrying the variant alleles o... DisGeNET Detail
We suggest that SNPs in the P53 pathway, especially the P21 ser31arg polymorphism and combined polym... DisGeNET Detail
MDM2 T309G has a synergistic effect with P21 ser31arg single nucleotide polymorphisms on the risk of... DisGeNET Detail
An association between endometrial cancer and the polymorphism at codon 31 (AGC/serine to AGA/argini... DisGeNET Detail
Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal cancer risk and progn... DisGeNET Detail
The results for the p21 Ser31Arg polymorphism suggested that 31Ser is a moderate-risk allele for squ... DisGeNET Detail
The AGT haplotype (which includes the rs1801270A allele) was the most frequent haplotype among all s... DisGeNET Detail
An association between endometrial cancer and the polymorphism at codon 31 (AGC/serine to AGA/argini... DisGeNET Detail
An association between endometrial cancer and the polymorphism at codon 31 (AGC/serine to AGA/argini... DisGeNET Detail
The AGT haplotype (which includes the rs1801270A allele) was the most frequent haplotype among all s... DisGeNET Detail
Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal cancer risk and progn... DisGeNET Detail
The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs1059234) also provided ... DisGeNET Detail
The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs1059234) also provided ... 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
rs1801270 dbSNP
Genome
hg19
Position
chr6:36,651,971-36,651,971
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1199
Mean of sample read depth (HGVD)
54.86
Standard deviation of sample read depth (HGVD)
26.91
Number of reference allele (HGVD)
1215
Number of alternative allele (HGVD)
1183
Allele Frequency (HGVD)
0.4933277731442869
Gene Symbol (HGVD)
CDKN1A
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))
rs1801270
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4808
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8058
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8574
East Asian Allele Counts (ExAC)
4153
East Asian Heterozygous Counts (ExAC)
2075
East Asian Homozygous Counts (ExAC)
1039
East Asian Allele Frequency (ExAC)
0.4843713552600886
Chromosome Counts in All Race (ExAC)
119784
Allele Counts in All Race (ExAC)
17712
Heterozygous Counts in All Race (ExAC)
12718
Homozygous Counts in All Race (ExAC)
2497
Allele Frequency in All Race (ExAC)
0.14786615908635545
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