Variant (rsID / SNP)

rs61736587

rs61736587 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP2. Location: chromosome 19, position 7,712,322. Clinical significance in the table: Pathogenic.

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Reference-table entries

STXBP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:7712322
Cytoband: 19p13.2
HGVS: NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)
Allele change: Missense_G552S

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis 5|Autoinflammatory 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.