|| common in clinvar
|?|| (C;C) (C;T) (T;T) ||28|
] mentioned as potentially affecting white matter volume, sample size tiny
| Disease Association
|| 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.
[PMID 18204051] A common SNP of MCPH1 is associated with cranial volume variation in Chinese population.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 23296058] MCPH1 protein expression and polymorphisms are associated with risk of breast cancer.