Variant (rsID / SNP)

rs4926

rs4926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPING1. Location: chromosome 11, position 57,381,989. Clinical significance in the table: Benign.

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Reference-table entries

SERPING1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:57381989
Cytoband: 11q12.1
HGVS: NM_000062.3(SERPING1):c.1438G>A (p.Val480Met)
Allele change: Missense_V480M

Associated conditions / phenotypes

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.