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rs104886353

From SNPedia

ClinVar
Risk rs104886353(;)
Alt rs104886353(;)
Reference rs104886353(GGACCAAATGGACAACCT;GGACCAAATGGACAACCT)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858149_107858166del18
CLNSRC
CLNACC


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.