chr3:189638472:T>C Detail (hg38) (TP63)

Information

Genome

Assembly Position
hg19 chr3:189,356,261-189,356,261 View the variant detail on this assembly version.
hg38 chr3:189,638,472-189,638,472

HGVS

Type Transcript Protein
RefSeq NM_001114978.1:c.62+6895T>C
NM_003722.4:c.62+6895T>C
NM_001114979.1:c.62+6895T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.517
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 603273 OMIM
HGNC 15979 HGNC
Ensembl ENSG00000073282 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15511002 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-02-01 criteria provided, single submitter TP63-Related Spectrum Disorders germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.143 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.155 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.015 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.121 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.125 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.009 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.003 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.125 Lung Neoplasms [A genome-wide association study identifies two new lung cancer susceptibility l... GAD 21725308 Detail
0.125 Malignant neoplasm of lung Genome-wide association analysis identifies new lung cancer susceptibility loci ... GWASCAT 23143601 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003722.5(TP63):c.62+6895T>C AND TP63-Related Spectrum Disorders ClinVar Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
[A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and ... DisGeNET Detail
Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking wom... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4488809 dbSNP
Genome
hg38
Position
chr3:189,638,472-189,638,472
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs4488809
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5175
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8674
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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