Variant: rs1189399471 

    present in Gene: ASPM
    present in Chromosome: 1
    Position on Chromosome: 197103099
    Alleles of this Variant: T/-

rs1189399471 in ASPM gene and Dysmorphic features PMID 15806441 2005 Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

PMID 19028728 2009 The molecular landscape of ASPM mutations in primary microcephaly.

PMID 18452193 2008 Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19332161 2009 Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

PMID 16141009 2005 ASPM mutations identified in patients with primary microcephaly and seizures.

PMID 20978018 2010 A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

PMID 22775483 2013 Genetic heterogeneity in Pakistani microcephaly families.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 27250695 2016 Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

rs1189399471 in ASPM gene and Multiple congenital anomalies PMID 18452193 2008 Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

PMID 27250695 2016 Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

PMID 16141009 2005 ASPM mutations identified in patients with primary microcephaly and seizures.

PMID 20978018 2010 A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19028728 2009 The molecular landscape of ASPM mutations in primary microcephaly.

PMID 15806441 2005 Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

PMID 22775483 2013 Genetic heterogeneity in Pakistani microcephaly families.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 19332161 2009 Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.