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Variant (rsID / SNP)

rs144979314

F5

rs144979314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F5. Location: chromosome 1, position 169,512,106. 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
1:169512106
Cytoband
1q24.2
HGVS
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)
Allele change
Missense_N741S

Associated conditions / phenotypes

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

Public references

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