Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894430
rs104894430
SLC25A15 ; TPTE2P5
0.800 GeneticVariation UNIPROT Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. 19242930

2009
dbSNP: rs104894430
rs104894430
SLC25A15 ; TPTE2P5
0.800 GeneticVariation UNIPROT HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. 16601889

2006
dbSNP: rs104894430
rs104894430
SLC25A15 ; TPTE2P5
0.800 GeneticVariation UNIPROT A novel mutation, P126R, in a Japanese patient with HHH syndrome. 11814739

2002
dbSNP: rs104894430
rs104894430
SLC25A15 ; TPTE2P5
0.800 GeneticVariation UNIPROT Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 11552031

2001
dbSNP: rs104894430
rs104894430
SLC25A15 ; TPTE2P5
0.800 GeneticVariation UNIPROT Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 11668643

2001
dbSNP: rs104894430
rs104894430
SLC25A15 ; TPTE2P5
0.800 GeneticVariation UNIPROT Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 10805333

2000
dbSNP: rs104894430
rs104894430
SLC25A15 ; TPTE2P5
0.800 GeneticVariation UNIPROT Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. 10369256

1999
dbSNP: rs104894430
rs104894430
SLC25A15 ; TPTE2P5
A 0.800 CausalMutation CLINVAR