Variant (rsID / SNP)

rs121918541

rs121918541 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP2. Location: chromosome 19, position 7,706,967. 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: 19:7706967
Cytoband: 19p13.2
HGVS: NM_006949.4(STXBP2):c.626T>C (p.Leu209Pro)
Allele change: Missense_L220P

Associated conditions / phenotypes

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE

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.