chr9:21968200:C>G Detail (hg38) (CDKN2A)

Information

Genome

Assembly Position
hg19 chr9:21,968,199-21,968,199 View the variant detail on this assembly version.
hg38 chr9:21,968,200-21,968,200

HGVS

Type Transcript Protein
RefSeq NM_000077.4:c.*29G>C
NM_001195132.1:c.*193G>C
NM_058195.3:c.*144G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.984
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.977

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600160 OMIM
HGNC 1787 HGNC
Ensembl ENSG00000147889 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35780385 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2020-05-05 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Benign no assertion criteria provided not specified germline Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Malignant tumor of cervix Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs18005... BeFree 23534750 Detail
0.001 cervix carcinoma Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs18005... BeFree 23534750 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000077.5(CDKN2A):c.*29G>C AND Squamous cell lung carcinoma ClinVar Detail
NM_000077.5(CDKN2A):c.*29G>C AND not specified ClinVar Detail
NM_000077.5(CDKN2A):c.*29G>C AND not provided ClinVar Detail
Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566) genes in Thai ce... DisGeNET Detail
Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566) genes in Thai ce... 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
rs11515 dbSNP
Genome
hg38
Position
chr9:21,968,200-21,968,200
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs11515
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9839
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16489
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
8447
East Asian Heterozygous Counts (ExAC)
197
East Asian Homozygous Counts (ExAC)
4125
East Asian Allele Frequency (ExAC)
0.9767576318223867
Chromosome Counts in All Race (ExAC)
121326
Allele Counts in All Race (ExAC)
106796
Heterozygous Counts in All Race (ExAC)
12438
Homozygous Counts in All Race (ExAC)
47179
Allele Frequency in All Race (ExAC)
0.8802400145063712
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