Variant: rs121912670 

    present in Gene: CHRNG
    present in Chromosome: 2
    Position on Chromosome: 232542992
    Alleles of this Variant: C/T

rs121912670 in CHRNG gene and MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE PMID 16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

PMID 16826520 2006 Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

rs121912670 in CHRNG gene and Multiple pterygium syndrome PMID 16826520 2006 Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

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