{{Rsnum
|rsid=104886287
|Chromosome=X
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL4A5
|position=108694809
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COL4A5
}}{{omim
|id=303630
|rsnum=104886287
|variant=0002
}}
{{omim
|id=301050
|rsnum=104886287
}}{{ClinVar
|rsid=104886287
|Reversed=0
|FwdREF=G
|FwdALT=A,C
|REF=G
|ALT=A,C
|RSPOS=107938039
|CHROM=X
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=COL4A5:1287
|GENE_NAME=COL4A5
|GENE_ID=1287
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000023.10:g.107938039G>C
|CLNORIGIN=1
|CLNSRCID=
NBK1207
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000021640.2
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDBN=Alport syndrome, X-linked recessive
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1207:C1567742:301050:63:88917
|CLNSRC=GeneReviews
|Disease=Alport syndrome
}}{{PMID Auto
|PMID=1672282
|Title=Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.
}}