Variant: rs786204789 

    present in Gene: TMCO1-AS1;TMCO1
    present in Chromosome: 1
    Position on Chromosome: 165768250
    Alleles of this Variant: ACCA/-

rs786204789 in TMCO1-AS1;TMCO1 gene and Cerebrofaciothoracic Dysplasia PMID 24194475 2014 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

PMID 20018682 2010 Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

PMID 23320496 2013 Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.