chr7:124467470:T>C Detail (hg19) (POT1)

Information

Genome

Assembly Position
hg19 chr7:124,467,470-124,467,470
hg38 chr7:124,827,416-124,827,416 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_015450.2:c.1595-111A>G
NR_003102.1:c.1595-111A>G
NR_003103.1:c.1595-111A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.337
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 606478 OMIM
HGNC 17284 HGNC
Ensembl ENSG00000128513 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30857844 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-06-15 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Carcinoma of lung When stratified by genotype, there was a suggestion of a dose-response relations... BeFree 19285750 Detail
<0.001 Carcinoma of lung POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associate... BeFree 19285750 Detail
0.015 Carcinoma of lung POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associate... BeFree 19285750 Detail
0.005 Malignant neoplasm of lung POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associate... BeFree 19285750 Detail
0.005 Malignant neoplasm of lung When stratified by genotype, there was a suggestion of a dose-response relations... BeFree 19285750 Detail
0.155 Malignant neoplasm of lung POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associate... BeFree 19285750 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_015450.3(POT1):c.1595-111A>G AND not provided ClinVar Detail
When stratified by genotype, there was a suggestion of a dose-response relationship between tertiles... DisGeNET Detail
POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associated with lung cancer (... DisGeNET Detail
POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associated with lung cancer (... DisGeNET Detail
POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associated with lung cancer (... DisGeNET Detail
When stratified by genotype, there was a suggestion of a dose-response relationship between tertiles... DisGeNET Detail
POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associated with lung cancer (... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10244817 dbSNP
Genome
hg19
Position
chr7:124,467,470-124,467,470
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))
rs10244817
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3374
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5654
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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