chr3:189665394:C>T Detail (hg38) (TP63)

Information

Genome

Assembly Position
hg19 chr3:189,383,183-189,383,183 View the variant detail on this assembly version.
hg38 chr3:189,665,394-189,665,394

HGVS

Type Transcript Protein
RefSeq NM_001114978.1:c.62+33817C>T
NM_003722.4:c.62+33817C>T
NM_001114979.1:c.62+33817C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.318
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603273 OMIM
HGNC 15979 HGNC
Ensembl ENSG00000073282 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15511607 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
0.242 Adenocarcinoma of lung (disorder) Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japan... GWASCAT 20871597 Detail
0.125 Lung Neoplasms [Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japa... GAD 20871597 Detail
0.242 Adenocarcinoma of lung (disorder) A genome-wide association study identifies two new susceptibility loci for lung ... GWASCAT 22797724 Detail
0.127 Adenocarcinoma of lung (disorder) The combined analyses identified two susceptibility loci for lung adenocarcinoma... BeFree 20871597 Detail
Annotation

Annotations

DescrptionSourceLinks
Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean popul... DisGeNET Detail
[Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean popu... DisGeNET Detail
A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in th... DisGeNET Detail
The combined analyses identified two susceptibility loci for lung adenocarcinoma: TERT (rs2736100, c... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10937405 dbSNP
Genome
hg38
Position
chr3:189,665,394-189,665,394
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs10937405
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3181
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5331
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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