{{Rsnum
|rsid=113994200
|Chromosome=17
|Orientation=plus
|geno1=(-;-)
|geno2=(-;G)
|geno3=(G;G)
|Gene=PAFAH1B1
|position=2680211
|Gene_s=PAFAH1B1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=113994200
|Reversed=0
|FwdREF=G
|FwdALT=
|REF=TG
|ALT=T
|RSPOS=2583499
|CHROM=17
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000000000002110200
|GENEINFO=PAFAH1B1:5048
|GENE_NAME=PAFAH1B1
|GENE_ID=5048
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.2583505delG
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK5189
|CLNSIG=5
|CLNCUI=C1843916
|CLNDBN=Lissencephaly 1
|Disease=Lissencephaly 1
|CLNACC=RCV000020298.1
|Tags=PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK5189:C1843916:607432
}}
{{omim
|id=607432
|rsnum=113994200
}}