Variant (rsID / SNP)

rs104886189

rs104886189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A5. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COL4A5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.3
HGVS: NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
Allele change: Missense_G869R

Associated conditions / phenotypes

X-linked Alport syndrome|Alport syndrome|Atypical hemolytic-uremic syndrome|Autosomal dominant Alport syndrome

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.