Variant (rsID / SNP)

rs17876047

rs17876047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F12. Location: chromosome 5, position 176,831,589. Clinical significance in the table: Benign.

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Reference-table entries

F12Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:176831589
Cytoband: 5q35.3
HGVS: NM_000505.4(F12):c.711C>T (p.Pro237=)
Allele change: Synonymous_P237P

Associated conditions / phenotypes

Factor XII deficiency disease|Hereditary angioedema type 3

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.