Variant (rsID / SNP)

rs61751507

rs61751507 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPN1. Location: chromosome 10, position 101,829,514. Clinical significance in the table: Benign.

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Reference-table entries

CPN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:101829514
Cytoband: 10q24.2
HGVS: NM_001308.3(CPN1):c.533G>A (p.Gly178Asp)
Allele change: Missense_G178D

Associated conditions / phenotypes

Anaphylotoxin inactivator 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.