Variant: rs797044677 

    present in Gene: CHRNG
    present in Chromosome: 2
    Position on Chromosome: 232540049
    Alleles of this Variant: -/C

rs797044677 in CHRNG gene and Dysmorphic features PMID 22167768 2012 CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

PMID 25957469 2015 Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

PMID 16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

PMID 24038971 2013 Neuromotor synapses in Escobar syndrome.

PMID 27245440 2016 Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

rs797044677 in CHRNG gene and Multiple congenital anomalies PMID 24038971 2013 Neuromotor synapses in Escobar syndrome.

PMID 16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

PMID 22167768 2012 CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

PMID 27245440 2016 Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

PMID 25957469 2015 Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.