Variant: rs397514481 

    present in Gene: PLCB4
    present in Chromosome: 20
    Position on Chromosome: 9409080
    Alleles of this Variant: G/A;T

rs397514481 in PLCB4 gene and AURICULOCONDYLAR SYNDROME 2 PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

rs397514481 in PLCB4 gene and Auriculocondylar syndrome 1 PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

rs397514481 in PLCB4 gene and Dysmorphic features PMID 18314001 2008 Question mark ears and post-auricular tags.

PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

PMID 16114046 2005 Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.

PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

PMID 28328130 2017 Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

PMID 27007857 2016 Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

rs397514481 in PLCB4 gene and Multiple congenital anomalies PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

PMID 28328130 2017 Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

PMID 27007857 2016 Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

PMID 18314001 2008 Question mark ears and post-auricular tags.

PMID 16114046 2005 Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.

rs397514481 in PLCB4 gene and Muscle hypotonia PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

PMID 18314001 2008 Question mark ears and post-auricular tags.

PMID 27007857 2016 Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

PMID 16114046 2005 Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.

PMID 28328130 2017 Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.