Variant (rsID / SNP)

rs141309384

rs141309384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP2. Location: chromosome 19, position 7,710,134. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

STXBP2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:7710134
Cytoband: 19p13.2
HGVS: NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val)
Allele change: Missense_A444V

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.