Variant (rsID / SNP)

rs144004164

rs144004164 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRF1. Location: chromosome 10, position 72,358,847. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRF1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:72358847
Cytoband: 10q22.1
HGVS: NM_001083116.3(PRF1):c.630C>T (p.Pro210=)
Allele change: Synonymous_P210P

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis 2

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.