{{Rsnum
|rsid=113994202
|Chromosome=17
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PAFAH1B1
|position=2672645
|Gene_s=PAFAH1B1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=113994202
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=2575939
|CHROM=17
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=PAFAH1B1:5048
|GENE_NAME=PAFAH1B1
|GENE_ID=5048
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.2575939T>C
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK5189
|CLNSIG=5
|CLNCUI=C1843916
|CLNDBN=Lissencephaly 1
|Disease=Lissencephaly 1
|CLNACC=RCV000020304.2
|Tags=PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK5189:C1843916:607432
}}
{{omim
|id=607432
|rsnum=113994202
}}