chr22:40552119:G>A Detail (hg19) (TNRC6B)

Information

Genome

Assembly Position
hg19 chr22:40,552,119-40,552,119
hg38 chr22:40,156,115-40,156,115 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001024843.1:c.46G>A NP_001020014.1:p.Val16Met
Ensemble ENST00000301923.13:c.46G>A ENST00000301923.13:p.Val16Met
ENST00000402203.5:c.46G>A ENST00000402203.5:p.Val16Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 610740 OMIM
HGNC 29190 HGNC
Ensembl ENSG00000100354 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-11-02 criteria provided, single submitter not provided germline Detail
Benign 2019-03-05 criteria provided, single submitter TNRC6B-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001024843.2(TNRC6B):c.46G>A (p.Val16Met) AND not provided ClinVar Detail
NM_001024843.2(TNRC6B):c.46G>A (p.Val16Met) AND TNRC6B-related disorder ClinVar Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... 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
-
dbSNP
rs9611280 dbSNP
Genome
hg19
Position
chr22:40,552,119-40,552,119
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
1418
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
7.052186177715092E-4
Chromosome Counts in All Race (ExAC)
34604
Allele Counts in All Race (ExAC)
3840
Heterozygous Counts in All Race (ExAC)
3494
Homozygous Counts in All Race (ExAC)
173
Allele Frequency in All Race (ExAC)
0.11096983007744769
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