Variant (rsID / SNP)

rs121918160

rs121918160 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROC. Location: chromosome 2, position 128,186,071. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PROCLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:128186071
Cytoband: 2q14.3
HGVS: NM_000312.4(PROC):c.935C>T (p.Ser312Leu)
Allele change: Missense_S312L

Associated conditions / phenotypes

Thrombophilia due to protein C deficiency, autosomal dominant

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.