{{Rsnum
|rsid=1057091
|Gene=MCPH1
|Chromosome=8
|position=6643023
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.2254
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=LOC102723801,MCPH1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 56.6 | 32.7 | 10.6
| HCB | 64.2 | 33.6 | 2.2
| JPT | 49.6 | 41.6 | 8.8
| YRI | 68.0 | 29.9 | 2.0
| ASW | 71.9 | 24.6 | 3.5
| CHB | 64.2 | 33.6 | 2.2
| CHD | 62.0 | 31.5 | 6.5
| GIH | 38.6 | 44.6 | 16.8
| LWK | 79.1 | 17.3 | 3.6
| MEX | 62.1 | 32.8 | 5.2
| MKK | 60.9 | 30.1 | 9.0
| TSI | 51.0 | 36.3 | 12.7
| HapMapRevision=28
}}{{Venter SNP
|rsid=1057091
|allele=T
|frequency=0.283
|uid=1103652232396
|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.
}}

{{ClinVar
|rsid=1057091
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=6500544
|CHROM=8
|GMAF=0.2253
|dbSNPBuildID=86
|SSR=0
|SAO=0
|VP=0x05036000000017051f100100
|GENEINFO=MCPH1:79648
|GENE_NAME=MCPH1
|GENE_ID=79648
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.6500544C>T
|CLNSIG=2
|Tags=PM;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.7746; 0.2254
|CLNACC=RCV000020901.1
|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
}}

{{GET Evidence
|gene=MCPH1
|aa_change=Pro828Ser
|aa_change_short=P828S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1057091
|overall_frequency_n=2598
|overall_frequency_d=9946
|overall_frequency=0.261211
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=32
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=1
|webscore=N
}}

{{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}}