Variant (rsID / SNP)

rs121918474

rs121918474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROS1. Location: chromosome 3, position 93,624,643. Clinical significance in the table: Pathogenic.

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Reference-table entries

PROS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:93624643
Cytoband: 3q11.1
HGVS: NM_000313.4(PROS1):c.586A>G (p.Lys196Glu)
Allele change: Missense_K196E

Associated conditions / phenotypes

Thrombophilia due to protein S deficiency, autosomal dominant|Thrombophilia due to protein S deficiency, autosomal recessive

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.