LRP1B EXON 12-22 DELETION Detail (hg38) (LRP1B)

Information

Genome

Assembly Position
hg19 chr2:141,665,446-141,777,671 View the variant detail on this assembly version.
hg38 chr2:140,907,877-141,020,102
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 608766 OMIM
HGNC 6693 HGNC
Ensembl ENSG00000168702 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
ovarian cancer Doxorubicin D Predictive Supports Resistance Somatic 3 22896685 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
A minimum common region of deletion of 0.19Mb, encompassing exons 12–22 of LRP1B4 was observed in 4 ... CIViC Evidence 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
LRP1B
Genome
hg38
Position
chr2:140,907,877-141,020,102
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
EXON 12-22 DELETION
Transcript 1 (CIViC Variant)
ENST00000389484.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/266
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