chr19:45387615:T>C Detail (hg38) (PPP1R13L)

Information

Genome

Assembly Position
hg19 chr19:45,890,873-45,890,873 View the variant detail on this assembly version.
hg38 chr19:45,387,615-45,387,615

HGVS

Type Transcript Protein
RefSeq NM_006663.3:c.1816-1435A>G
NM_001142502.1:c.1816-1435A>G
Ensemble ENST00000360957.10:c.1816-1435A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.449
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 607463 OMIM
HGNC 18838 HGNC
Ensembl ENSG00000104881 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62285560 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
0.002 Carcinoma of lung A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... BeFree 22335888 Detail
0.008 Carcinoma of lung A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... BeFree 22335888 Detail
0.002 Carcinoma of lung A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... BeFree 22335888 Detail
0.004 Malignant neoplasm of lung A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... BeFree 22335888 Detail
0.007 Malignant neoplasm of lung A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... BeFree 22335888 Detail
0.067 Malignant neoplasm of lung A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... BeFree 22335888 Detail
Annotation

Annotations

DescrptionSourceLinks
A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... DisGeNET Detail
A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... DisGeNET Detail
A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... DisGeNET Detail
A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... DisGeNET Detail
A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... DisGeNET Detail
A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1970764 dbSNP
Genome
hg38
Position
chr19:45,387,615-45,387,615
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))
rs1970764
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4487
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7520
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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