{{Rsnum
|rsid=122468178
|Chromosome=X
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=MBTPS2
|position=21880921
|Gene_s=MBTPS2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=300294
|variant=0003
|rsnum=122468178
}}{{ClinVar
|rsid=122468178
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=21899039
|CHROM=X
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=MBTPS2:51360
|GENE_NAME=MBTPS2
|GENE_ID=51360
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.21899039G>A
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=7323; 300294.0003
|CLNSIG=5
|CLNCUI=C1839988
|CLNDBN=IFAP syndrome with or without BRESHECK syndrome; not provided
|Disease=IFAP syndrome with or without BRESHECK syndrome; not provided
|CLNACC=RCV000012157.16; RCV000081781.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:OMIM:Orphanet:Orphanet
|CLNDSDBID=C1839988:300404:308205:2273:85284
}}