Variant (rsID / SNP)

rs118203907

rs118203907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F5. Location: chromosome 1, position 169,500,043. Clinical significance in the table: Pathogenic.

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Reference-table entries

F5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:169500043
Cytoband: 1q24.2
HGVS: NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys)
Allele change: Missense_Y1730C

Associated conditions / phenotypes

Factor V deficiency

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.