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Variant (rsID / SNP)

rs5900

F2

rs5900 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F2. Location: chromosome 11, position 46,751,059. 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
11:46751059
Cytoband
11p11.2
HGVS
NM_000506.5(F2):c.1602G>A (p.Pro534=)
Allele change
Synonymous_P518P

Associated conditions / phenotypes

Congenital prothrombin 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.