Variant: rs1554150607 

    present in Gene: MEF2C
    present in Chromosome: 5
    Position on Chromosome: 88823786
    Alleles of this Variant: C/G

rs1554150607 in MEF2C gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 PMID 19876902 2009 Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.

PMID 19592390 2010 MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

PMID 23001426 2013 Refining the phenotype associated with MEF2C point mutations.

PMID 20513142 2010 Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

rs1554150607 in MEF2C gene and Severe intellectual disability PMID 23001426 2013 Refining the phenotype associated with MEF2C point mutations.

PMID 19876902 2009 Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.

PMID 19592390 2010 MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

PMID 20513142 2010 Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.