{{Rsnum
|rsid=2515569
|Gene=MCPH1
|Chromosome=8
|position=6444897
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MCPH1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 4.8 | 95.2
| ASW | 0.0 | 12.7 | 87.3
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 1.0 | 99.0
| LWK | 0.0 | 9.4 | 90.6
| MEX | 0.0 | 10.5 | 89.5
| MKK | 0.0 | 4.7 | 95.3
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=2515569
|allele=G
|frequency=1
|uid=1103652231666
|type=homozygous_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.
}}

{{ neighbor
| rsid = 930557
| distance = 235
}}

{{GET Evidence
|gene=MCPH1
|aa_change=Asp344Gly
|aa_change_short=D344G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2515569
|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=4
|autoscore=2
|webscore=N
}}

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