Variant (rsID / SNP)

rs104886142

rs104886142 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.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

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.1871G>A (p.Gly624Asp)
Allele change: Missense_G624D

Associated conditions / phenotypes

X-linked Alport syndrome|Hypertensive disorder|Mild proteinuria|Glomerulopathy|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.