TMPRSS6 transmembrane serine protease 6

Information
Symbol
TMPRSS6
Type
protein-coding
Description
transmembrane serine protease 6
Entrez Gene ID
164656
Genome
hg19
Position
chr22:37,461,476-37,505,753
Genome
hg38
Position
chr22:37,065,436-37,109,713
MIM
609862 OMIM
HGNC
HGNC:16517 HGNC
Ensembl
ENSG00000187045 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 36
Likely pathogenic 0 18
Benign 0 110
Likely benign 0 68
Conflicting classifications of pathogenicity 0 34
Uncertain significance 1 236
Ranking
ClinVar
0
0
100
330
26
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM IRIDA
SYNONYM MT2
MIM 609862 OMIM
HGNC HGNC:16517 HGNC
Ensembl ENSG00000187045 Ensembl
AllianceGenome HGNC:16517
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000406725.6 hg38 chr22 37,065,436 37,109,409 43,974
ENST00000381792.6 hg38 chr22 37,065,436 37,103,653 38,218
ENST00000442782.7 hg38 chr22 37,083,940 37,103,656 19,717
ENST00000406856.7 hg38 chr22 37,065,436 37,109,713 44,278
ENST00000346753.9 hg38 chr22 37,065,436 37,103,653 38,218
ENST00000676104.1 hg38 chr22 37,065,436 37,109,713 44,278
ENST00000346753.9 hg19 chr22 37,461,476 37,499,693 38,218
ENST00000381792.6 hg19 chr22 37,461,476 37,499,693 38,218
ENST00000406725.6 hg19 chr22 37,461,476 37,505,449 43,974
ENST00000406856.7 hg19 chr22 37,461,476 37,505,753 44,278
ENST00000676104.1 hg19 chr22 37,461,476 37,505,753 44,278
ENST00000442782.7 hg19 chr22 37,479,980 37,499,696 19,717
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