Variant (rsID / SNP)
rs141215990
rs141215990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STIM1. Location: chromosome 11, position 4,112,541. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
STIM1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:4112541
- Cytoband
- 11p15.4
- HGVS
- NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)
- Allele change
- Missense_S630F
Associated conditions / phenotypes
Combined immunodeficiency due to STIM1 deficiency|Myopathy with tubular aggregates|Stormorken syndrome|Combined immunodeficiency due to STIM1 deficiency|Myopathy, tubular aggregate, 1|Stormorken syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.