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Variant (rsID / SNP)

rs140080199

STIM1

rs140080199 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STIM1. Location: chromosome 11, position 4,112,898. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

STIM1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:4112898
Cytoband
11p15.4
HGVS
NM_001382567.1(STIM1):c.2021G>A (p.Arg674His)
Allele change
Missense_R749H

Associated conditions / phenotypes

Stormorken syndrome|Combined immunodeficiency due to STIM1 deficiency|Myopathy with tubular aggregates

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.