{{Rsnum
|rsid=12674488
|Gene=MCPH1
|Chromosome=8
|position=6480785
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.1396
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=MCPH1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 1.8 | 32.7 | 65.5
| HCB | 1.5 | 32.6 | 65.9
| JPT | 2.7 | 46.0 | 51.3
| YRI | 2.0 | 17.7 | 80.3
| ASW | 1.8 | 19.3 | 78.9
| CHB | 1.5 | 32.6 | 65.9
| CHD | 2.8 | 31.5 | 65.7
| GIH | 5.9 | 23.8 | 70.3
| LWK | 0.0 | 9.2 | 90.8
| MEX | 3.5 | 8.8 | 87.7
| MKK | 1.3 | 19.2 | 79.5
| TSI | 4.9 | 23.5 | 71.6
| HapMapRevision=28
}}

{{PMID|19028548}} mentioned as potentially affecting grey matter volume, sample size tiny

{{Venter SNP
|rsid=12674488
|allele=A
|frequency=0.158
|uid=1103652231789
|type=heterozygous_SNP
|hugo=MCPH1
|ensembl gene=ENSG00000147316
|ensembl transcript=ENST00000344683
|sift=TOLERATED
|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.
}}

{{GET Evidence
|gene=MCPH1
|aa_change=Thr682Asn
|aa_change_short=T682N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12674488
|overall_frequency_n=1313
|overall_frequency_d=10028
|overall_frequency=0.130933
|n_genomes=15
|n_genomes_annotated=0
|n_haplomes=15
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.993
|genetests_reviewed=Y
|nblosum100=1
|autoscore=2
|webscore=N
}}

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