Variant (rsID / SNP)

rs121909548

rs121909548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINC1. Location: chromosome 1, position 173,873,176. Clinical significance in the table: Pathogenic.

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Reference-table entries

SERPINC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:173873176
Cytoband: 1q25.1
HGVS: NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro)
Allele change: Missense_A416S

Associated conditions / phenotypes

Hereditary antithrombin deficiency

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.