chr10:95811439:C>T Detail (hg19) (PLCE1)

Information

Genome

Assembly Position
hg19 chr10:95,811,439-95,811,439
hg38 chr10:94,051,682-94,051,682 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001288989.1:c.1206+19430C>T
NM_016341.3:c.1206+19430C>T
Ensemble ENST00000371380.8:c.1206+19430C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.529
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 608414 OMIM
HGNC 17175 HGNC
Ensembl ENSG00000138193 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40241727 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
0.010 Esophageal Neoplasms Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C... BeFree 24935391 Detail
0.128 Malignant neoplasm of esophagus Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C... BeFree 24935391 Detail
0.003 esophageal carcinoma Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C... BeFree 24935391 Detail
0.245 Squamous cell carcinoma of esophagus Our study for the first time suggests that GWAS originated PLCE1 variants do not... BeFree 25139097 Detail
Annotation

Annotations

DescrptionSourceLinks
Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms... DisGeNET Detail
Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms... DisGeNET Detail
Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms... DisGeNET Detail
Our study for the first time suggests that GWAS originated PLCE1 variants do not have independent ro... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7922612 dbSNP
Genome
hg19
Position
chr10:95,811,439-95,811,439
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))
rs7922612
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.529
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8866
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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