Variant (rsID / SNP)

rs199422213

rs199422213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA1. Location: chromosome 14, position 94,849,249. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SERPINA1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:94849249
Cytoband: 14q32.13
HGVS: NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met)
Allele change: Missense_T109M

Associated conditions / phenotypes

PI Z(BRISTOL)|Alpha-1-antitrypsin 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.