chr3:50612068:A>T Detail (hg38) (CISH, MAPKAPK3, LOC129936806)

Information

Genome

Assembly Position
hg19 chr3:50,649,499-50,649,499 View the variant detail on this assembly version.
hg38 chr3:50,612,068-50,612,068

HGVS

Type Transcript Protein
RefSeq NM_001243926.1:c.-436A>T
Ensemble ENST00000446044.5:c.-436A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.636
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 602130 OMIM
HGNC 6888 HGNC
Ensembl ENSG00000114738 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12456876 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2010-06-03 no assertion criteria provided Tuberculosis, susceptibility to germline Detail
risk factor 2010-06-03 no assertion criteria provided Malaria, susceptibility to germline Detail
risk factor 2010-06-03 no assertion criteria provided Bacteremia, susceptibility to, 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 malaria [When all five single-nucleotide polymorphisms (SNPs) (at positions -639, -292, ... GAD 20484391 Detail
0.003 Bacteremia [When all five single-nucleotide polymorphisms (SNPs) (at positions -639, -292, ... GAD 20484391 Detail
0.004 tuberculosis [When all five single-nucleotide polymorphisms (SNPs) (at positions -639, -292, ... GAD 20484391 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001243926.2(MAPKAPK3):c.-436A>T AND Tuberculosis, susceptibility to ClinVar Detail
NM_001243926.2(MAPKAPK3):c.-436A>T AND Malaria, susceptibility to ClinVar Detail
NM_001243926.2(MAPKAPK3):c.-436A>T AND Bacteremia, susceptibility to, 2 ClinVar Detail
[When all five single-nucleotide polymorphisms (SNPs) (at positions -639, -292, -163, +1320, and +34... DisGeNET Detail
[When all five single-nucleotide polymorphisms (SNPs) (at positions -639, -292, -163, +1320, and +34... DisGeNET Detail
[When all five single-nucleotide polymorphisms (SNPs) (at positions -639, -292, -163, +1320, and +34... 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
rs414171 dbSNP
Genome
hg38
Position
chr3:50,612,068-50,612,068
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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))
rs414171
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6362
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10662
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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