chr22:36872750:T>G Detail (hg19) (TXN2)

Information

Genome

Assembly Position
hg19 chr22:36,872,750-36,872,750
hg38 chr22:36,476,703-36,476,703 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_012473.3:c.387+30A>C
NM_012473.3:c.81+30A>C
Ensemble ENST00000216185.7:c.387+30A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.308
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.267

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 609063 OMIM
HGNC 17772 HGNC
Ensembl ENSG00000100348 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65861974 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-05-15 criteria provided, single submitter not provided germline Detail
Benign 2021-12-05 criteria provided, single submitter combined oxidative phosphorylation deficiency 29 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
<0.001 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.011 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.001 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
<0.001 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.008 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.004 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
<0.001 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_012473.4(TXN2):c.387+30A>C AND not provided ClinVar Detail
NM_012473.4(TXN2):c.387+30A>C AND Combined oxidative phosphorylation deficiency 29 ClinVar Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2281082 dbSNP
Genome
hg19
Position
chr22:36,872,750-36,872,750
Variant Type
snv
Reference Allele
T
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))
rs2281082
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.308
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5162
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8634
East Asian Allele Counts (ExAC)
2302
East Asian Heterozygous Counts (ExAC)
1668
East Asian Homozygous Counts (ExAC)
317
East Asian Allele Frequency (ExAC)
0.26662033819782255
Chromosome Counts in All Race (ExAC)
121332
Allele Counts in All Race (ExAC)
87351
Heterozygous Counts in All Race (ExAC)
21403
Homozygous Counts in All Race (ExAC)
32974
Allele Frequency in All Race (ExAC)
0.7199337355355553
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