Variant (rsID / SNP)

rs200622588

rs200622588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F11. Location: chromosome 4, position 187,207,634. Clinical significance in the table: Uncertain significance.

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Reference-table entries

F11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:187207634
Cytoband: 4q35.2
HGVS: NM_000128.4(F11):c.1546G>A (p.Val516Met)
Allele change: Missense_V516M

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.