Variant (rsID / SNP)

rs121909567

rs121909567 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINC1. Location: chromosome 1, position 173,883,708. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SERPINC1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:173883708
Cytoband: 1q25.1
HGVS: NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)
Allele change: Missense_L131F

Associated conditions / phenotypes

Hereditary antithrombin deficiency|Deep venous thrombosis

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.