Variant (rsID / SNP)

rs104886121

rs104886121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A5. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL4A5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.3
HGVS: NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys)
Allele change: Missense_G521S

Associated conditions / phenotypes

X-linked 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.