Variant (rsID / SNP)

rs121918477

rs121918477 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F2. Location: chromosome 11, position 46,748,113. 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: 11:46748113
Cytoband: 11p11.2
HGVS: NM_000506.3(F2):c.940C>T (p.Arg314Cys)
Allele change: Missense_R298C

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.