Variant: rs1553810244 

    present in Gene: TBL1XR1
    present in Chromosome: 3
    Position on Chromosome: 177038369
    Alleles of this Variant: T/A

rs1553810244 in TBL1XR1 gene and Dysmorphic features PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

PMID 26769062 2016 A specific mutation in TBL1XR1 causes Pierpont syndrome.

PMID 25102098 2014 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

PMID 26740553 2016 Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.

PMID 28687524 2017 Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

PMID 28588275 2017 De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.

PMID 25425123 2015 A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

PMID 28562391 2017 Pierpont syndrome: report of a new patient.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 24891185 2014 De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

rs1553810244 in TBL1XR1 gene and Muscle hypotonia PMID 26740553 2016 Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.

PMID 28687524 2017 Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

PMID 28588275 2017 De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.

PMID 28562391 2017 Pierpont syndrome: report of a new patient.

PMID 26769062 2016 A specific mutation in TBL1XR1 causes Pierpont syndrome.

PMID 25425123 2015 A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 24891185 2014 De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

PMID 25102098 2014 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.