chr22:37066896:A>G Detail (hg38) (TMPRSS6)

Information

Genome

Assembly Position
hg19 chr22:37,462,936-37,462,936 View the variant detail on this assembly version.
hg38 chr22:37,066,896-37,066,896

HGVS

Type Transcript Protein
RefSeq NM_153609.3:c.2180T>C NP_705837.1:p.Val727Ala
NM_001289001.1:c.2180T>C NP_001275930.1:p.Val727Ala
NM_001289000.1:c.2246T>C NP_001275929.1:p.Val749Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.451
ToMMo:0.439
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.450

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 609862 OMIM
HGNC 16517 HGNC
Ensembl ENSG00000187045 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65880436 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign criteria provided, single submitter not specified germline Detail
Benign 2018-03-06 criteria provided, single submitter microcytic anemia germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2021-09-10 criteria provided, single submitter Iron-refractory iron deficiency anemia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 Hereditary hemochromatosis Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
0.004 Iron deficiency We sought to identify relationships of TMPRSS6 K253E, A736V, and Y739Y to iron, ... BeFree 22265928 Detail
0.003 iron deficiency anemia To evaluate the association of genetic variants in genes involved in iron delive... BeFree 22323359 Detail
<0.001 Non-alcoholic Fatty Liver Disease The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic ... BeFree 23144979 Detail
<0.001 thalassemia These results indicate that TMPRSS6 polymorphisms are more frequent in subjects ... BeFree 25557470 Detail
0.205 Hereditary hemochromatosis In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels... BeFree 23433094 Detail
0.003 anemia In 545 children below 5 years of age from rural southern Rwanda, we assessed the... BeFree 24175968 Detail
0.003 anemia In particular, the V736A TMPRSS6 polymorphism was associated to moderately lower... BeFree 25557470 Detail
<0.001 Hereditary hemochromatosis Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expressi... BeFree 22885719 Detail
0.122 Hemoglobin Adverse Event [Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.] GAD 19862010 Detail
0.122 Hemoglobin Adverse Event Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GWASCAT 19862010 Detail
0.122 Finding of Mean Corpuscular Hemoglobin GWAS of blood cell traits identifies novel associated loci and epistatic interac... GWASCAT 23263863 Detail
0.133 Hereditary hemochromatosis In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels... BeFree 23433094 Detail
0.122 Finding of Mean Corpuscular Hemoglobin Genome-wide association study of hematological and biochemical traits in a Japan... GWASCAT 20139978 Detail
0.170 Iron Overload The p.Ala736Val TMPRSS6 variant influences iron metabolism regulating the transc... BeFree 23144979 Detail
0.123 iron deficiency anemia TMPRSS6 rs855791 polymorphism influences the susceptibility to iron deficiency a... BeFree 24782651 Detail
<0.001 Hereditary hemochromatosis In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels... BeFree 23433094 Detail
<0.001 Iron Overload The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic ... BeFree 23144979 Detail
0.122 Hemoglobin Adverse Event Genome-wide association study identifies variants in TMPRSS6 associated with hem... GWASCAT 19820698 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) AND not specified ClinVar Detail
NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) AND Microcytic anemia ClinVar Detail
NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) AND not provided ClinVar Detail
NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) AND Iron-refractory iron deficiency anemia ClinVar Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
We sought to identify relationships of TMPRSS6 K253E, A736V, and Y739Y to iron, erythrocyte, and pic... DisGeNET Detail
To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regu... DisGeNET Detail
The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic fatty liver disease. DisGeNET Detail
These results indicate that TMPRSS6 polymorphisms are more frequent in subjects with persistent IDA ... DisGeNET Detail
In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels in individuals posi... DisGeNET Detail
In 545 children below 5 years of age from rural southern Rwanda, we assessed the role of iron defici... DisGeNET Detail
In particular, the V736A TMPRSS6 polymorphism was associated to moderately lower hemoglobin, mean co... DisGeNET Detail
Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hem... DisGeNET Detail
[Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.] DisGeNET Detail
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. DisGeNET Detail
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian a... DisGeNET Detail
In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels in individuals posi... DisGeNET Detail
Genome-wide association study of hematological and biochemical traits in a Japanese population. DisGeNET Detail
The p.Ala736Val TMPRSS6 variant influences iron metabolism regulating the transcription of the hepat... DisGeNET Detail
TMPRSS6 rs855791 polymorphism influences the susceptibility to iron deficiency anemia in women at re... DisGeNET Detail
In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels in individuals posi... DisGeNET Detail
The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic fatty liver disease. DisGeNET Detail
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. 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
rs855791 dbSNP
Genome
hg38
Position
chr22:37,066,896-37,066,896
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
102.83
Standard deviation of sample read depth (HGVD)
48.34
Number of reference allele (HGVD)
1324
Number of alternative allele (HGVD)
1089
Allele Frequency (HGVD)
0.4513054289266473
Gene Symbol (HGVD)
TMPRSS6
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))
rs855791
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4394
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7364
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8574
East Asian Allele Counts (ExAC)
3857
East Asian Heterozygous Counts (ExAC)
2151
East Asian Homozygous Counts (ExAC)
853
East Asian Allele Frequency (ExAC)
0.4498483788196874
Chromosome Counts in All Race (ExAC)
120428
Allele Counts in All Race (ExAC)
69004
Heterozygous Counts in All Race (ExAC)
28330
Homozygous Counts in All Race (ExAC)
20337
Allele Frequency in All Race (ExAC)
0.5729896701763709
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