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Variant (rsID / SNP)

rs185342631

SERPING1

rs185342631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPING1. Location: chromosome 11, position 57,365,748. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SERPING1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:57365748
Cytoband
11q12.1
HGVS
NM_000062.3(SERPING1):c.5C>T (p.Ala2Val)
Allele change
Missense_A2V

Associated conditions / phenotypes

Hereditary angioedema type 1|C1 inhibitor deficiency|Hereditary angioedema type 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.