Variant (rsID / SNP)

rs35637264

rs35637264 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STIM1. Location: chromosome 11, position 4,112,808. Clinical significance in the table: Benign.

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Reference-table entries

STIM1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:4112808
Cytoband: 11p15.4
HGVS: NM_001382567.1(STIM1):c.1931C>A (p.Ser644Tyr)
Allele change: Missense_S719Y

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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