{{Rsnum
|rsid=104886273
|Chromosome=X
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=COL4A5
|position=108686111
|Gene_s=COL4A5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=104886273
|Reversed=0
|FwdREF=G
|FwdALT=C,T
|REF=G
|ALT=C,T
|RSPOS=107929341
|CHROM=X
|dbSNPBuildID=132
|SSR=0
|SAO=0
|VP=0x050068000000000002110100
|GENEINFO=COL4A5:1287
|GENE_NAME=COL4A5
|GENE_ID=1287
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000023.10:g.107929341G>T
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000021602.1
|Tags=PM;PMC;OTHERKG;LSD;OM
|CLNDBN=Alport syndrome, X-linked recessive
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1207:C1567742:301050:63:88917
|Disease=Alport syndrome
}}
{{omim
|id=301050
|rsnum=104886273
}}{{PMID Auto
|PMID=15954103
|Title=Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
}}

{{PMID Auto
|PMID=11223851
|Title=Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.
}}