chr3:178897674:C>A Detail (hg19) (PIK3CA)

Information

Genome

Assembly Position
hg19 chr3:178,897,674-178,897,674
hg38 chr3:179,179,886-179,179,886 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006218.3:c.-76-18864C>A
Ensemble ENST00000263967.4:c.-76-18864C>A
ENST00000643187.1:c.-76-18864C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.067
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 171834 OMIM
HGNC 8975 HGNC
Ensembl ENSG00000121879 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15258560 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
0.004 Squamous cell carcinoma of esophagus EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlati... BeFree 24945674 Detail
0.128 Squamous cell carcinoma of esophagus EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlati... BeFree 24945674 Detail
0.130 endometrial carcinoma (3) KRAS rs7312175 and PIK3CA rs6443624 had significant effects on recurrence of... BeFree 22146979 Detail
0.004 uterine corpus cancer (3) KRAS rs7312175 and PIK3CA rs6443624 had significant effects on recurrence of... BeFree 22146979 Detail
0.004 Malignant neoplasm of endometrium (3) KRAS rs7312175 and PIK3CA rs6443624 had significant effects on recurrence of... BeFree 22146979 Detail
Annotation

Annotations

DescrptionSourceLinks
EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanc... DisGeNET Detail
EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanc... DisGeNET Detail
(3) KRAS rs7312175 and PIK3CA rs6443624 had significant effects on recurrence of endometrial cancer ... DisGeNET Detail
(3) KRAS rs7312175 and PIK3CA rs6443624 had significant effects on recurrence of endometrial cancer ... DisGeNET Detail
(3) KRAS rs7312175 and PIK3CA rs6443624 had significant effects on recurrence of endometrial cancer ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6443624 dbSNP
Genome
hg19
Position
chr3:178,897,674-178,897,674
Variant Type
snv
Reference Allele
C
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))
rs6443624
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0671
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1124
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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