chr5:1325688:A>G Detail (hg38) (CLPTM1L)

Information

Genome

Assembly Position
hg19 chr5:1,325,803-1,325,803 View the variant detail on this assembly version.
hg38 chr5:1,325,688-1,325,688

HGVS

Type Transcript Protein
RefSeq NM_030782.4:c.1146+63T>C
Ensemble ENST00000320895.10:c.1146+63T>C
ENST00000507807.3:c.639+63T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.143
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 612585 OMIM
HGNC 24308 HGNC
Ensembl ENSG00000049656 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv20013185 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
0.143 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
Annotation

Annotations

DescrptionSourceLinks
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs465498 dbSNP
Genome
hg38
Position
chr5:1,325,688-1,325,688
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs465498
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1431
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2399
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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