Gene entry
STIM1
stromal interaction molecule 1
- Chromosome
- 11
- Cytoband
- 11p15.4
- Variants (rsID)
- 36
STIM1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.4). Its official name is “stromal interaction molecule 1”. The reference table lists 36 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs189905382Benignsingle nucleotide variantCombined immunodeficiency due to STIM1 deficiency|Myopathy with tubular aggregates|Stormorken syndrome
- rs35637264Benignsingle nucleotide variantCombined immunodeficiency due to STIM1 deficiency|Myopathy with tubular aggregates|Stormorken syndrome
- rs140080199Conflicting interpretationssingle nucleotide variantStormorken syndrome|Combined immunodeficiency due to STIM1 deficiency|Myopathy with tubular aggregates
- rs141215990Conflicting interpretationssingle nucleotide variantCombined immunodeficiency due to STIM1 deficiency|Myopathy with tubular aggregates|Stormorken syndrome|Combined immunodeficiency due to STIM1 deficiency|Myopathy, tubular aggregate, 1|Stormorken syndrome
- rs144602692Uncertain significancesingle nucleotide variantCombined immunodeficiency due to STIM1 deficiency|Stormorken syndrome|Myopathy with tubular aggregates|Combined immunodeficiency due to STIM1 deficiency
Other listed variants
- rs1561876
- rs2123110
- rs2898950
- rs2920142
- rs4622250
- rs4910589
- rs4910878
- rs7126870
- rs10835262
- rs10835272
- rs11030210
- rs11030366
- rs11825543
- rs16929438
- rs16929712
- rs34909519
- rs55970555
- rs56305604
- rs66816129
- rs72847179
- rs75197750
- rs75959972
- rs76303578
- rs112934051
- rs115010269
- rs117698578
- rs117737417
- rs118037202
- rs118150959
- rs138189645
- rs139417282
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.