Variant: rs1553238271

present in Gene: CAMTA1 present in Chromosome: 1 Position on Chromosome: 7661827 Alleles of this Variant: C/T

rs1553238271 in CAMTA1 gene and Dysmorphic features PMID 24738973 2015 Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.

PMID 17470457 2007 Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.

PMID 24145135 2014 Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.

PMID 25049392 2014 Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor.

PMID 16678093 2006 The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases.

PMID 17537720 2007 A potential dimerization region of dCAMTA is critical for termination of fly visual response.

PMID 22031302 2011 Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

PMID 22693284 2012 Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

rs1553238271 in CAMTA1 gene and Muscle hypotonia PMID 17537720 2007 A potential dimerization region of dCAMTA is critical for termination of fly visual response.

PMID 24145135 2014 Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.

PMID 22031302 2011 Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

PMID 17470457 2007 Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.

PMID 16678093 2006 The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases.

PMID 24738973 2015 Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.

PMID 25049392 2014 Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor.

PMID 22693284 2012 Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.