Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886435

From SNPedia

ClinVar
Risk rs104886435(;)
Alt rs104886435(;)
Reference rs104886435(AGGGCCCTCCTGGTCCACC;AGGGCCCTCCTGGTCCACC)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821182_107821200del19
CLNSRC ClinVar
CLNACC RCV000021177.1,


[PMID 10561141] Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.