Variant: rs1555379911 

    present in Gene: CHAMP1
    present in Chromosome: 13
    Position on Chromosome: 114325794
    Alleles of this Variant: C/G

rs1555379911 in CHAMP1 gene and Dysmorphic features PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

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

PMID 21063390 2011 CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment.

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

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

rs1555379911 in CHAMP1 gene and Muscle hypotonia PMID 21063390 2011 CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment.

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.

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