Variant (rsID / SNP)

rs121918478

rs121918478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F2. Location: chromosome 11, position 46,750,296. Clinical significance in the table: Pathogenic.

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Reference-table entries

F2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:46750296
Cytoband: 11p11.2
HGVS: NM_000506.3(F2):c.1381C>T (p.Arg461Trp)
Allele change: Missense_R445W

Associated conditions / phenotypes

Hereditary factor II deficiency disease

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.