chr7:142962114:G>A Detail (hg19) (GSTK1, TMEM139-AS1)

Information

Genome

Assembly Position
hg19 chr7:142,962,114-142,962,114
hg38 chr7:143,265,021-143,265,021 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_015917.2:c.313G>A NP_057001.1:p.Ala105Thr
NM_001143680.1:c.313G>A NP_001137152.1:p.Ala105Thr
NM_001143681.1:c.184G>A NP_001137153.1:p.Ala62Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 602321 OMIM
HGNC 16906 HGNC
Ensembl ENSG00000197448 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv31295665 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-30 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.014 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.102 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.016 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.099 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.017 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.096 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.006 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.003 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.014 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.021 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.017 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.017 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.019 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.101 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.017 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.022 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_015917.3(GSTK1):c.313G>A (p.Ala105Thr) AND not specified ClinVar Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr7:142,962,114-142,962,114
Variant Type
snv
Reference Allele
G
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))
rs200469041
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0003
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Allele Counts (ExAC)
6
East Asian Heterozygous Counts (ExAC)
6
East Asian Homozygous Counts (ExAC)
0
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Frequency (ExAC)
6.933210076265311E-4
Chromosome Counts in All Race (ExAC)
121316
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.770055062811171E-5
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