{{Rsnum
|rsid=930557
|Gene=MCPH1
|Chromosome=8
|position=6444662
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.3163
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=MCPH1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 60.0 | 35.4 | 4.6
| HCB | 64.4 | 28.9 | 6.7
| JPT | 50.0 | 47.7 | 2.3
| YRI | 9.5 | 50.8 | 39.7
| ASW | 0.0 | 0.0 | 0.0
| CHB | 64.4 | 28.9 | 6.7
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=930557
|allele=C
|frequency=0.783
|uid=1103652231665
|type=homozygous_SNP
|hugo=MCPH1
|ensembl gene=ENSG00000147316
|ensembl transcript=ENST00000344683
|sift=
|disease=Defects in MCPH1 are a cause of premature chromosome condensation with microcephaly and mental retardation (PCC syndrome) (MIM:606858). PCC syndrome is a disorder of microcephaly, short stature and misregulated chromosome condensation. Patients with this condition have a high number (10%-15%) of prophase-like cells in routine cytogenetic preparations and have poor-quality metaphase G-banding.
}}

{{ neighbor
| rsid = 2515569
| distance = 235
}}

{{PMID Auto
|PMID=22529908
|Title=The Derived Allele of ASPM Is Associated with Lexical Tone Perception
|OA=1
}}

{{ClinVar
|rsid=930557
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=6302183
|CHROM=8
|GMAF=0.3164
|dbSNPBuildID=86
|SSR=0
|SAO=0
|VP=0x05016800000017051f100100
|GENEINFO=MCPH1:79648
|GENE_NAME=MCPH1
|GENE_ID=79648
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.6302183G>C
|CLNSIG=2
|Tags=PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.3163; 0.6837
|CLNACC=RCV000020903.1
|CLNDBN=Primary autosomal recessive microcephaly 1
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet
|CLNDSDBID=NBK9587:C1855081:251200:606858:2512
|CLNSRC=GeneReviews
|CLNSRCID=NBK9587
|COMMON=1
|Disease=Primary autosomal recessive microcephaly 1
}}

{{PMID Auto
|PMID=19687126
|Title=A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women.
|OA=1
}}

{{PMID Auto
|PMID=20080800
|Title=Sex-dependent association of common variants of microcephaly genes with brain structure.
|OA=1
}}

{{GET Evidence
|gene=MCPH1
|aa_change=Asp266His
|aa_change_short=D266H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs930557
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}