Variant (rsID / SNP)

rs118203910

rs118203910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F5. Location: chromosome 1, position 169,487,691. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

F5Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:169487691
Cytoband: 1q24.2
HGVS: NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)
Allele change: Missense_R2102C

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.