Variant (rsID / SNP)

rs121909551

rs121909551 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINC1. Location: chromosome 1, position 173,883,881. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SERPINC1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:173883881
Cytoband: 1q25.1
HGVS: NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
Allele change: Missense_P73L

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.