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rs104886374

From SNPedia

ClinVar
Risk rs104886374(;)
Alt rs104886374(;)
Reference rs104886374(CCTGGAGACCCAGGGCAA;CCTGGAGACCCAGGGCAA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107867507_107867524del18
CLNSRC ClinVar
CLNACC RCV000021459.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.