chr6:36653597:C>T Detail (hg19) (CDKN1A)

Information

Genome

Assembly Position
hg19 chr6:36,653,597-36,653,597
hg38 chr6:36,685,820-36,685,820 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000389.4:c.*20C>T
NM_001220778.1:c.*20C>T
NM_001291549.1:c.*20C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.495
ToMMo:0.484
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.477

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv24981149 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<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
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
-
Genome
hg19
Position
chr6:36,653,597-36,653,597
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
837
Mean of sample read depth (HGVD)
89.57
Standard deviation of sample read depth (HGVD)
44.35
Number of reference allele (HGVD)
845
Number of alternative allele (HGVD)
829
Allele Frequency (HGVD)
0.49522102747909197
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))
rs1059234
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4835
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8104
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
4112
East Asian Heterozygous Counts (ExAC)
2104
East Asian Homozygous Counts (ExAC)
1004
East Asian Allele Frequency (ExAC)
0.4765878535002318
Chromosome Counts in All Race (ExAC)
121238
Allele Counts in All Race (ExAC)
16833
Heterozygous Counts in All Race (ExAC)
12253
Homozygous Counts in All Race (ExAC)
2290
Allele Frequency in All Race (ExAC)
0.13884260710338342
Genome browser