Variant (rsID / SNP)

rs121912714

rs121912714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA1. Location: chromosome 14, position 94,847,286. Clinical significance in the table: Pathogenic/Likely pathogenic; other.

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Reference-table entries

SERPINA1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic; other
Variant type: single nucleotide variant
Chromosome / position: 14:94847286
Cytoband: 14q32.13
HGVS: NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)
Allele change: Missense_D280V

Associated conditions / phenotypes

PI NULL(CARDIFF)|PI P(LOWELL)|PI Q0(CARDIFF)|PI P(DUARTE)|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.