Variant (rsID / SNP)

rs200855062

rs200855062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP2. Location: chromosome 19, position 7,707,105. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

STXBP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:7707105
Cytoband: 19p13.2
HGVS: NM_006949.4(STXBP2):c.680G>A (p.Arg227His)
Allele change: Missense_R238H

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis 5

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.