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Variant (rsID / SNP)

rs34450592

STXBP2

rs34450592 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP2. Location: chromosome 19, position 7,707,369. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

STXBP2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:7707369
Cytoband
19p13.2
HGVS
NM_006949.4(STXBP2):c.849G>A (p.Glu283=)
Allele change
Synonymous_E294E

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis|Familial hemophagocytic lymphohistiocytosis 5|Autoinflammatory syndrome

Public references

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