{{Rsnum
|rsid=2442513
|Gene=MCPH1
|Chromosome=8
|position=6439029
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=G
|GMAF=0.07117
|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 | 99.1 | 0.9 | 0.0
| HCB | 98.5 | 1.5 | 0.0
| JPT | 99.1 | 0.9 | 0.0
| YRI | 55.9 | 37.9 | 6.2
| ASW | 57.9 | 36.8 | 5.3
| CHB | 98.5 | 1.5 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 92.1 | 7.9 | 0.0
| LWK | 45.0 | 45.0 | 10.1
| MEX | 93.1 | 6.9 | 0.0
| MKK | 47.1 | 40.0 | 12.9
| TSI | 97.1 | 2.9 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=2442513
|allele=T
|frequency=0.983
|uid=1103652231650
|type=homozygous_SNP
|hugo=MCPH1
|ensembl gene=ENSG00000147316
|ensembl transcript=ENST00000344683
|sift=AFFECT FUNCTION
|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=Arg171Ser
|aa_change_short=R171S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2442513
|overall_frequency_n=8951
|overall_frequency_d=9686
|overall_frequency=0.924117
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=99
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=2
|n_web_uneval=1
}}

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