Variant (rsID / SNP)

rs121918150

rs121918150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROC. Location: chromosome 2, position 128,186,136. Clinical significance in the table: Pathogenic.

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Reference-table entries

PROCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:128186136
Cytoband: 2q14.3
HGVS: NM_000312.4(PROC):c.1000G>A (p.Gly334Ser)
Allele change: Missense_G334S

Associated conditions / phenotypes

Thrombophilia due to protein C deficiency, autosomal recessive|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.