Variant (rsID / SNP)

rs121909563

rs121909563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINC1. Location: chromosome 1, position 173,881,079. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SERPINC1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:173881079
Cytoband: 1q25.1
HGVS: NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln)
Allele change: Missense_R161Q

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.