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Variant (rsID / SNP)

rs144602692

STIM1

rs144602692 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STIM1. Location: chromosome 11, position 4,076,828. Clinical significance in the table: Uncertain significance.

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Reference-table entries

STIM1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:4076828
Cytoband
11p15.4
HGVS
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile)
Allele change
Missense_T153I

Associated conditions / phenotypes

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

Public references

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