Variant (rsID / SNP)

rs121907948

rs121907948 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPING1. Location: chromosome 11, position 57,381,948. Clinical significance in the table: Pathogenic.

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Reference-table entries

SERPING1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:57381948
Cytoband: 11q12.1
HGVS: NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)
Allele change: Missense_R466H

Associated conditions / phenotypes

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor|Hereditary angioedema type 1

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.