Variant (rsID / SNP)
rs73885319
rs73885319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOL1. Location: chromosome 22, position 36,661,906. Clinical significance in the table: Conflicting interpretations of pathogenicity; risk factor.
Reference-table entries
APOL1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:36661906
- Cytoband
- 22q12.3
- HGVS
- NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)
- Allele change
- Missense_S342G
Associated conditions / phenotypes
Hyalinosis, Segmental Glomerular|Steroid-resistant nephrotic syndrome|Focal segmental glomerulosclerosis|Glomerulonephritis|Sickled erythrocytes|Focal segmental glomerulosclerosis|Nephrotic range proteinuria|Proteinuria|Focal segmental glomerulosclerosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.