Variant: rs143009120 

    present in Gene: SGCG
    present in Chromosome: 13
    Position on Chromosome: 23234627
    Alleles of this Variant: T/C

rs143009120 in SGCG gene and Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) PMID 10714584 2000 Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

PMID 8968757 1996 A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.

PMID 30345904 2018 Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.