Variant: rs121918608 

    present in Gene: AHCY
    present in Chromosome: 20
    Position on Chromosome: 34292375
    Alleles of this Variant: T/C

rs121918608 in AHCY gene and Overgrowth PMID 26527160 2015 Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.

PMID 20852937 2010 S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

PMID 26095522 2016 Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.

PMID 22959829 2012 Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

PMID 16736098 2006 S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.

rs121918608 in AHCY gene and Rhabdomyolysis PMID 28779239 2017 Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

rs121918608 in AHCY gene and S-adenosylhomocysteine hydrolase deficiency PMID 16736098 2006 S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.

PMID 20852937 2010 S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

PMID 19177456 2009 S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome.

PMID 15024124 2004 S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.