Variant (rsID / SNP)

rs121965063

rs121965063 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F11. Location: chromosome 4, position 187,195,347. Clinical significance in the table: Pathogenic.

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Reference-table entries

F11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:187195347
Cytoband: 4q35.2
HGVS: NM_000128.4(F11):c.403G>T (p.Glu135Ter)
Allele change: Nonsense_E135X

Associated conditions / phenotypes

Hereditary factor XI deficiency disease|Thrombocytopenia|Abnormal bleeding|Inborn genetic diseases|Plasma factor XI 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.