Variant (rsID / SNP)

rs17473

rs17473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA3. Location: chromosome 14, position 95,085,642. Clinical significance in the table: Likely benign.

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Reference-table entries

SERPINA3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:95085642
Cytoband: 14q32.13
HGVS: NM_001085.5(SERPINA3):c.754C>G (p.Pro252Ala)
Allele change: Missense_P252A

Associated conditions / phenotypes

ANTICHYMOTRYPSIN BONN 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.