Variant: rs797044962 

    present in Gene: CHAMP1
    present in Chromosome: 13
    Position on Chromosome: 114325034
    Alleles of this Variant: C/T

rs797044962 in CHAMP1 gene and Multiple congenital anomalies PMID 21063390 2011 CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment.

PMID 27148580 2016 De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

PMID 26340335 2015 De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26751395 2016 De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.