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Variant (rsID / SNP)

rs141499372

STX11

rs141499372 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STX11. Location: chromosome 6, position 144,508,353. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

STX11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:144508353
Cytoband
6q24.2
HGVS
NM_003764.4(STX11):c.589G>A (p.Val197Met)
Allele change
Missense_V197M

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis 4|Autoinflammatory syndrome

Public references

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