Variant: rs1554117456 

    present in Gene: CPLANE1
    present in Chromosome: 5
    Position on Chromosome: 37245569
    Alleles of this Variant: C/A

rs1554117456 in CPLANE1 gene and Dysmorphic features PMID 24178751 2014 C5orf42 is the major gene responsible for OFD syndrome type VI.

PMID 25846457 2015 Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 21679365 2011 The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

PMID 22236771 2012 Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

rs1554117456 in CPLANE1 gene and Multiple congenital anomalies PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 24178751 2014 C5orf42 is the major gene responsible for OFD syndrome type VI.

PMID 25846457 2015 Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

PMID 21679365 2011 The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 22236771 2012 Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

rs1554117456 in CPLANE1 gene and Muscle hypotonia PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 21679365 2011 The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

PMID 22236771 2012 Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

PMID 25846457 2015 Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

PMID 24178751 2014 C5orf42 is the major gene responsible for OFD syndrome type VI.