{{Rsnum
|rsid=199422124
|Chromosome=8
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=MCPH1
|position=6409336
|Gene_s=MCPH1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=8
|CLNACC=RCV000020902.1
|CLNALLE=1
|CLNDBN=Primary autosomal recessive microcephaly 1
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet
|CLNDSDBID=NBK9587:C1855081:251200:606858:2512
|CLNHGVS=NC_000008.10:g.6266857C>G
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK9587
|Disease=Primary autosomal recessive microcephaly 1
|FwdALT=G
|FwdREF=C
|GENEINFO=MCPH1:79648
|GENE_ID=79648
|GENE_NAME=MCPH1
|REF=C
|RSPOS=6266857
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050360000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=199422124
}}