chr22:19867539:C>G Detail (hg19) (TXNRD2)

Information

Genome

Assembly Position
hg19 chr22:19,867,539-19,867,539
hg38 chr22:19,880,016-19,880,016 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001352301.1:c.1185+163G>C
NM_001352300.1:c.1272+163G>C
NM_006440.4:c.1275+163G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.316
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 606448 OMIM
HGNC 18155 HGNC
Ensembl ENSG00000184470 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65377181 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-06-16 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Malignant neoplasm of prostate Less common alleles of rs11913319 in TXNRD2 and rs125701 in OGG1 were associated... BeFree 25284284 Detail
0.004 prostate carcinoma Less common alleles of rs11913319 in TXNRD2 and rs125701 in OGG1 were associated... BeFree 25284284 Detail
<0.001 prostate carcinoma Less common alleles of rs11913319 in TXNRD2 and rs125701 in OGG1 were associated... BeFree 25284284 Detail
0.020 Malignant neoplasm of prostate Less common alleles of rs11913319 in TXNRD2 and rs125701 in OGG1 were associated... BeFree 25284284 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006440.5(TXNRD2):c.1275+163G>C AND not provided ClinVar Detail
Less common alleles of rs11913319 in TXNRD2 and rs125701 in OGG1 were associated with an increased r... DisGeNET Detail
Less common alleles of rs11913319 in TXNRD2 and rs125701 in OGG1 were associated with an increased r... DisGeNET Detail
Less common alleles of rs11913319 in TXNRD2 and rs125701 in OGG1 were associated with an increased r... DisGeNET Detail
Less common alleles of rs11913319 in TXNRD2 and rs125701 in OGG1 were associated with an increased r... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11913319 dbSNP
Genome
hg19
Position
chr22:19,867,539-19,867,539
Variant Type
snv
Reference Allele
C
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))
rs11913319
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3156
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5289
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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