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Variant (rsID / SNP)

rs201078171

F5

rs201078171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F5. Location: chromosome 1, position 169,524,504. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

F5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:169524504
Cytoband
1q24.2
HGVS
NM_000130.5(F5):c.1034G>A (p.Arg345Gln)
Allele change
Missense_R345Q

Associated conditions / phenotypes

Thrombophilia due to activated protein C resistance|Budd-Chiari syndrome|Factor V deficiency|Thrombophilia due to thrombin defect

Public references

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