Variant (rsID / SNP)

rs104894392

rs104894392 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F10. Location: chromosome 13, position 113,803,460. Clinical significance in the table: Pathogenic.

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Reference-table entries

F10Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:113803460
Cytoband: 13q34
HGVS: NM_000504.4(F10):c.1096C>T (p.Arg366Cys)
Allele change: Missense_R366C

Associated conditions / phenotypes

Factor X 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.