chr22:37084757:C>T Detail (hg38) (TMPRSS6)

Information

Genome

Assembly Position
hg19 chr22:37,480,797-37,480,797 View the variant detail on this assembly version.
hg38 chr22:37,084,757-37,084,757

HGVS

Type Transcript Protein
RefSeq NM_153609.3:c.1056G>A NP_705837.1:p.Ser352=
NM_001289001.1:c.1056G>A NP_001275930.1:p.Ser352=
NM_001289000.1:c.1056G>A NP_001275929.1:p.Ser352=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.334
ToMMo:0.310
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.409

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 tgv65881398 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 2018-01-13 criteria provided, single submitter microcytic anemia germline Detail
Benign 2024-01-31 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Hereditary hemochromatosis We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene,... BeFree 25976471 Detail
0.125 Hereditary hemochromatosis We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene,... BeFree 25976471 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001374504.1(TMPRSS6):c.1056G>A (p.Ser352=) AND not specified ClinVar Detail
NM_001374504.1(TMPRSS6):c.1056G>A (p.Ser352=) AND Microcytic anemia ClinVar Detail
NM_001374504.1(TMPRSS6):c.1056G>A (p.Ser352=) AND not provided ClinVar Detail
We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene, rs2230267 in FTL ge... DisGeNET Detail
We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene, rs2230267 in FTL ge... 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
rs2111833 dbSNP
Genome
hg38
Position
chr22:37,084,757-37,084,757
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
895
Mean of sample read depth (HGVD)
14.68
Standard deviation of sample read depth (HGVD)
8.00
Number of reference allele (HGVD)
1193
Number of alternative allele (HGVD)
597
Allele Frequency (HGVD)
0.3335195530726257
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))
rs2111833
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3105
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5203
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
2192
East Asian Allele Counts (ExAC)
897
East Asian Heterozygous Counts (ExAC)
633
East Asian Homozygous Counts (ExAC)
132
East Asian Allele Frequency (ExAC)
0.4092153284671533
Chromosome Counts in All Race (ExAC)
34340
Allele Counts in All Race (ExAC)
13141
Heterozygous Counts in All Race (ExAC)
9061
Homozygous Counts in All Race (ExAC)
2040
Allele Frequency in All Race (ExAC)
0.3826732673267327
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