View source for Rs104886357

{{Rsnum
|rsid=104886357
|Chromosome=X
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=COL4A5
|position=108620249
|Gene_s=COL4A5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|StabilizedOrientation=plus
}}{{ClinVar
|ALT=G
|CHROM=X
|CLNALLE=1
|CLNDBN=Alport syndrome, X-linked recessive
|CLNDSDB=OMIM
|CLNDSDBID=301050
|CLNHGVS=NC_000023.10:g.107863479T>G
|CLNSIG=4
|Disease=Alport syndrome
|FwdALT=G
|FwdREF=T
|GENEINFO=COL4A5:1287
|GENE_ID=1287
|GENE_NAME=COL4A5
|REF=T
|RSPOS=107863479
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;INT;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068080001000002110100
|WGT=1
|dbSNPBuildID=132
|rsid=104886357
}}{{PMID Auto
|PMID=12436246
|Title=Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.
}}