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Variant (rsID / SNP)

rs143064939

F2

rs143064939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F2. Location: chromosome 11, position 46,751,085. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

F2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:46751085
Cytoband
11p11.2
HGVS
NM_000506.5(F2):c.1628G>T (p.Arg543Leu)
Allele change
Missense_R527L

Associated conditions / phenotypes

Thrombophilia due to thrombin defect|Congenital prothrombin deficiency

Public references

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