Variant (rsID / SNP)

rs121964951

rs121964951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLKB1. Location: chromosome 4, position 187,178,437. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KLKB1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:187178437
Cytoband: 4q35.2
HGVS: NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr)
Allele change: Missense_C548Y

Associated conditions / phenotypes

Prekallikrein 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.