Variant (rsID / SNP)
rs7614835
rs7614835 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROS1. Location: chromosome 3, position 93,646,209. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PROS1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:93646209
- Cytoband
- 3q11.1
- HGVS
- NM_000313.4(PROS1):c.119G>T (p.Arg40Leu)
- Allele change
- Missense_R40L
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.