Variant: rs121918243 

    present in Gene: MMACHC
    present in Chromosome: 1
    Position on Chromosome: 45508848
    Alleles of this Variant: G/A

rs121918243 in MMACHC gene and Dysmorphic features PMID 26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.

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

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

PMID 19370762 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

PMID 21748409 2012 Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

PMID 26658511 2015 Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

PMID 25398587 2014 Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

rs121918243 in MMACHC gene and Methylmalonic acidemia with homocystinuria PMID 28218226 2017 Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type.

PMID 26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.

PMID 19700356 2009 Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.

PMID 23825108 2013 Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

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

PMID 17853453 2007 Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

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

PMID 18164228 2008 Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

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

PMID 25687216 2015 Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.

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

PMID 22560872 2012 A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.

rs121918243 in MMACHC gene and Movement Disorders PMID 25398587 2014 Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

PMID 21748409 2012 Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

PMID 26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.

PMID 19370762 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

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

PMID 26658511 2015 Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

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

rs121918243 in MMACHC gene and Muscle hypotonia PMID 26658511 2015 Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

PMID 26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.

PMID 21748409 2012 Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

PMID 19370762 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

PMID 25398587 2014 Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

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

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