HSPH1 T17 DELETION Detail (hg38) (HSPH1)

Information

Genome

Assembly Position
hg19 chr13:31,722,621-31,722,637 View the variant detail on this assembly version.
hg38 chr13:31,148,484-31,148,500
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 610703 OMIM
HGNC 16969 HGNC
Ensembl ENSG00000120694 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer Fluorouracil,Oxaliplatin B Predictive Supports Sensitivity/Response Somatic 2 24512910 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
329 consecutive patients with stage II–III colorectal tumors with MSI after surgical resection at te... CIViC Evidence Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
HSPH1
Genome
hg38
Position
chr13:31,148,484-31,148,500
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
T17 DELETION
Transcript 1 (CIViC Variant)
ENST00000320027.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/491
Genome browser