Variant (rsID / SNP)

rs28931574

rs28931574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOA1. Location: chromosome 11, position 116,707,769. Clinical significance in the table: Pathogenic.

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Reference-table entries

APOA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:116707769
Cytoband: 11q23.3
HGVS: NM_000039.3(APOA1):c.148G>C (p.Gly50Arg)
Allele change: Missense_G50R

Associated conditions / phenotypes

Familial amyloid polyneuropathy, Iowa type

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.