{{Rsnum
|rsid=121434305
|Chromosome=8
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=MCPH1
|position=6409330
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=MCPH1
}}{{omim
|id=607117
|rsnum=121434305
|variant=0001
}}{{ClinVar
|rsid=121434305
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=6266851
|CHROM=8
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=MCPH1:79648
|GENE_NAME=MCPH1
|GENE_ID=79648
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.6266851C>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK9587; 607117.0001
|CLNSIG=5
|CLNCUI=C1855081; C1855081
|CLNDBN=Primary autosomal recessive microcephaly 1
|Disease=Primary autosomal recessive microcephaly 1
|CLNACC=RCV000003618.1
|Tags=PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet
|CLNDSDBID=NBK9587:C1855081:251200:606858:2512
}}