chr22:37485724:T>C Detail (hg19) (TMPRSS6)

Information

Genome

Assembly Position
hg19 chr22:37,485,724-37,485,724
hg38 chr22:37,089,684-37,089,684 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_153609.3:c.730A>G NP_705837.1:p.Lys244Glu
NM_001289001.1:c.730A>G NP_001275930.1:p.Lys244Glu
NM_001289000.1:c.730A>G NP_001275929.1:p.Lys244Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.459
ToMMo:0.470
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.412

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 tgv65881678 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 2021-09-10 criteria provided, single submitter Iron-refractory iron deficiency 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
0.004 Iron deficiency We sought to identify relationships of TMPRSS6 K253E, A736V, and Y739Y to iron, ... BeFree 22265928 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu) AND not specified ClinVar Detail
NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu) AND Microcytic anemia ClinVar Detail
NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu) AND Iron-refractory iron deficiency anemia ClinVar Detail
NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu) AND not provided ClinVar Detail
We sought to identify relationships of TMPRSS6 K253E, A736V, and Y739Y to iron, erythrocyte, and pic... 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
rs2235324 dbSNP
Genome
hg19
Position
chr22:37,485,724-37,485,724
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1145
Mean of sample read depth (HGVD)
62.43
Standard deviation of sample read depth (HGVD)
32.70
Number of reference allele (HGVD)
1238
Number of alternative allele (HGVD)
1052
Allele Frequency (HGVD)
0.45938864628820963
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))
rs2235324
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4703
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7883
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8092
East Asian Allele Counts (ExAC)
3337
East Asian Heterozygous Counts (ExAC)
2059
East Asian Homozygous Counts (ExAC)
639
East Asian Allele Frequency (ExAC)
0.4123826000988631
Chromosome Counts in All Race (ExAC)
110678
Allele Counts in All Race (ExAC)
44042
Heterozygous Counts in All Race (ExAC)
27430
Homozygous Counts in All Race (ExAC)
8306
Allele Frequency in All Race (ExAC)
0.3979291277399302
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