Variant (rsID / SNP)

rs28933973

rs28933973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRF1. Location: chromosome 10, position 72,358,804. Clinical significance in the table: Pathogenic.

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Reference-table entries

PRF1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:72358804
Cytoband: 10q22.1
HGVS: NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)
Allele change: Missense_R225W

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|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.