THSD1 thrombospondin type 1 domain containing 1

Information
Symbol
THSD1
Type
protein-coding
Description
thrombospondin type 1 domain containing 1
Entrez Gene ID
55901
Genome
hg19
Position
chr13:52,951,302-52,980,307
Genome
hg38
Position
chr13:52,377,167-52,406,172
MIM
616821 OMIM
HGNC
HGNC:17754 HGNC
Ensembl
ENSG00000136114 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 4
Benign 0 14
Likely benign 0 44
Uncertain significance 0 82
Ranking
ClinVar
0
0
8
134
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 ANIB12
SYNONYM LMPHM13
SYNONYM TMTSP
SYNONYM UNQ3010
MIM 616821 OMIM
HGNC HGNC:17754 HGNC
Ensembl ENSG00000136114 Ensembl
AllianceGenome HGNC:17754
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000258613.5 hg38 chr13 52,377,167 52,406,172 29,006
ENST00000648254.1 hg38 chr13 52,377,199 52,416,373 39,175
ENST00000349258.8 hg38 chr13 52,377,167 52,406,494 29,328
ENST00000258613.5 hg19 chr13 52,951,302 52,980,307 29,006
ENST00000349258.8 hg19 chr13 52,951,302 52,980,629 29,328
ENST00000648254.1 hg19 chr13 52,951,334 52,990,508 39,175
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