THBD thrombomodulin

Information
Symbol
THBD
Type
protein-coding
Description
thrombomodulin
Entrez Gene ID
7056
Genome
hg19
Position
chr20:23,026,270-23,030,309
Genome
hg38
Position
chr20:23,045,633-23,049,672
MIM
188040 OMIM
HGNC
HGNC:11784 HGNC
Ensembl
ENSG00000178726 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 6
Likely pathogenic 0 6
Benign 0 76
Likely benign 0 210
Conflicting classifications of pathogenicity 0 32
risk factor 0 2
Uncertain significance 0 550
Ranking
ClinVar
0
0
138
688
14
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 :
Filtering :
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 AHUS6
SYNONYM BDCA-3
SYNONYM BDCA3
SYNONYM CD141
SYNONYM THPH12
SYNONYM THRM
SYNONYM TM
MIM 188040 OMIM
HGNC HGNC:11784 HGNC
Ensembl ENSG00000178726 Ensembl
AllianceGenome HGNC:11784
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000377103.3 hg38 chr20 23,045,633 23,049,672 4,040
ENST00000377103.3 hg19 chr20 23,026,270 23,030,309 4,040
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