NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions Detail (hg19) (STIM1, LOC112081391, LOC121832782, LOC121832783, LOC124418420, LOC124418421, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173)

Information

Genome

Assembly Position
hg19 chr11:3,877,481-4,113,048
hg38 chr11:3,856,251-4,091,818 View the variant detail on this assembly version.
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC
Ensembl
NCBI
Gene Cards
OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2018-09-25 criteria provided, single submitter Stormorken syndrome,Combined immunodeficiency due to STIM1 deficiency,Myopathy, tubular aggregate, 1 germline Detail
Pathogenic 2018-09-25 criteria provided, single submitter Stormorken syndrome,Combined immunodeficiency due to STIM1 deficiency,Myopathy, tubular aggregate, 1 germline Detail
Pathogenic 2018-09-25 criteria provided, single submitter Stormorken syndrome,Combined immunodeficiency due to STIM1 deficiency,Myopathy, tubular aggregate, 1 germline Detail
Pathogenic 2018-09-19 criteria provided, single submitter Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome,Myopathy with tubular aggregates germline Detail
Pathogenic 2018-09-19 criteria provided, single submitter Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome,Myopathy with tubular aggregates germline Detail
Pathogenic 2018-09-19 criteria provided, single submitter Combined immunodeficiency due to STIM1 deficiency,Stormorken syndrome,Myopathy with tubular aggregates germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions ClinVar Detail
NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions ClinVar Detail
NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions ClinVar Detail
NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions ClinVar Detail
NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions ClinVar Detail
NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions ClinVar 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
-
Genome
hg19
Position
chr11:3,877,481-4,113,048
Variant Type
cnv
Genome browser