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Variant (rsID / SNP)

rs116554195

PRF1

rs116554195 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRF1. Location: chromosome 10, position 72,360,197. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PRF1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:72360197
Cytoband
10q22.1
HGVS
NM_001083116.3(PRF1):c.462A>G (p.Ala154=)
Allele change
Synonymous_A154A

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis 2|Autoinflammatory syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.