{{Rsnum
|rsid=17849654
|Gene=SLC25A15
|Chromosome=13
|position=40808575
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.3535
|Gene_s=GPR82,SLC25A15
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
}}{{Venter SNP
|rsid=17849654
|allele=T
|frequency=
|uid=1103649206462
|type=heterozygous_SNP
|hugo=SLC25A15
|ensembl gene=ENSG00000102743
|ensembl transcript=ENST00000379534
|sift=TOLERATED
|disease=Defects in SLC25A15 are the cause of hyperornithinemia- hyperammonemia-homocitrullinuria syndrome (HHH syndrome) (MIM:238970). It is an autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle.
}}

{{GET Evidence
|gene=SLC25A15
|aa_change=Ile254Leu
|aa_change_short=I254L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs17849654
|overall_frequency_n=3667
|overall_frequency_d=10758
|overall_frequency=0.340863
|n_genomes=28
|n_genomes_annotated=0
|n_haplomes=38
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-2
|autoscore=2
|n_web_uneval=4
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}