NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions Detail (hg38) (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 View the variant detail on this assembly version.
hg38	chr11:3,856,251-4,091,818

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Damaging scores predicted by bioinformatics tools

Neutral Damaging

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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.]

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