Variant (rsID / SNP)

rs281875250

rs281875250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F11. Location: chromosome 4, position 187,209,614. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

F11Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:187209614
Cytoband: 4q35.2
HGVS: NM_000128.4(F11):c.1724C>T (p.Ser575Leu)
Allele change: Missense_S575L

Associated conditions / phenotypes

Hereditary factor XI 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.