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Variant (rsID / SNP)

rs189905382

STIM1

rs189905382 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STIM1. Location: chromosome 11, position 4,080,610. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

STIM1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:4080610
Cytoband
11p15.4
HGVS
NM_001382567.1(STIM1):c.597C>A (p.Leu199=)
Allele change
Synonymous_L199L

Associated conditions / phenotypes

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

Public references

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