{{Rsnum
|rsid=199473684
|Chromosome=X
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GLA
|position=101399747
|Gene_s=CACNA1I,GLA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=199473684
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=100654735
|CHROM=X
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050068000000000002110100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.100654735C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=300644.0056
|CLNSIG=5
|CLNCUI=C1970820
|CLNDBN=Fabry disease, cardiac variant
|Disease=Fabry disease
|CLNACC=RCV000011515.3
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=C1970820
|GENEINFO=RPL36A-HNRNPH2:100529097; GLA:2717
|GENE_ID=100529097; 2717
|GENE_NAME=RPL36A-HNRNPH2; GLA
}}{{PMID Auto
|PMID=11828341
|Title=Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
|OA=1
}}