Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202247803
rs202247803
SLC25A15 ; TPTE2P5
T 0.700 CausalMutation CLINVAR Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition. 23247599

2013
dbSNP: rs202247803
rs202247803
SLC25A15 ; TPTE2P5
T 0.700 CausalMutation CLINVAR Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications. 23430880

2012
dbSNP: rs202247803
rs202247803
SLC25A15 ; TPTE2P5
T 0.700 CausalMutation CLINVAR Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15. 18978333

2008
dbSNP: rs202247803
rs202247803
SLC25A15 ; TPTE2P5
T 0.700 CausalMutation CLINVAR The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. 12807890

2003
dbSNP: rs202247803
rs202247803
SLC25A15 ; TPTE2P5
T 0.700 CausalMutation CLINVAR Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. 10369256

1999