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Variant (rsID / SNP)

rs151319700

PROC

rs151319700 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROC. Location: chromosome 2, position 128,186,435. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PROCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:128186435
Cytoband
2q14.3
HGVS
NM_000312.4(PROC):c.1299C>T (p.Gly433=)
Allele change
Synonymous_G433G

Associated conditions / phenotypes

Thrombophilia due to protein C deficiency, autosomal dominant

Public references

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