Variant (rsID / SNP)

rs121964926

rs121964926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F7. Location: chromosome 13, position 113,773,012. Clinical significance in the table: Pathogenic; other.

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Reference-table entries

F7Pathogenic

Clinical significance (as recorded): Pathogenic; other
Variant type: single nucleotide variant
Chromosome / position: 13:113773012
Cytoband: 13q34
HGVS: NM_019616.4(F7):c.1025G>A (p.Arg342Gln)
Allele change: Silent

Associated conditions / phenotypes

Factor VII deficiency|Factor VII Padua

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.