chr9:21968159:G>A Detail (hg19) (CDKN2A)

Information

Genome

Assembly Position
hg19 chr9:21,968,159-21,968,159
hg38 chr9:21,968,160-21,968,160 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000077.4:c.*69C>T
NM_001195132.1:c.*233C>T
NM_058195.3:c.*184C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.083
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

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 tgv35780369 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
Benign no assertion criteria provided not specified 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
0.360 melanoma Statistically significant association with melanoma risk was also observed for t... BeFree 23816148 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000077.5(CDKN2A):c.*69C>T AND not provided ClinVar Detail
NM_000077.5(CDKN2A):c.*69C>T AND not specified 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
Statistically significant association with melanoma risk was also observed for the carriers of the v... 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
rs3088440 dbSNP
Genome
hg19
Position
chr9:21,968,159-21,968,159
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs3088440
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0827
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1386
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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