Variant: rs546099787 

    present in Gene: CCDC163;MMACHC
    present in Chromosome: 1
    Position on Chromosome: 45500412
    Alleles of this Variant: A/G

rs546099787 in CCDC163;MMACHC gene and Methylmalonic acidemia with homocystinuria PMID 19700356 2009 Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.

PMID 20631720 2010 Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

PMID 16714133 2006 Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

PMID 22642810 2012 Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function.

PMID 20924684 2010 Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

PMID 20219402 2010 Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.

PMID 25809485 2015 Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.

PMID 16311595 2006 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

PMID 26412180 2015 [Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia].

PMID 28327205 2017 Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.

PMID 29042959 2017 Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report.