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Variant (rsID / SNP)

rs138925964

PROS1

rs138925964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROS1. Location: chromosome 3, position 93,598,123. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PROS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:93598123
Cytoband
3q11.1
HGVS
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)
Allele change
Missense_V510M

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.