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Variant (rsID / SNP)

rs756908183

F11

rs756908183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F11. Location: chromosome 4, position 187,195,344. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

F11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:187195344
Cytoband
4q35.2
HGVS
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
Allele change
Nonsense_Q134X

Associated conditions / phenotypes

Hereditary factor XI deficiency disease|Abnormal bleeding|Plasma factor XI deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.