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rs17849654

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs17849654(A;T)
Make rs17849654(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position40808575
GeneGPR82, SLC25A15
is asnp
is mentioned by
dbSNPrs17849654
ebirs17849654
HLIrs17849654
Exacrs17849654
Varsomers17849654
Maprs17849654
PheGenIrs17849654
hapmaprs17849654
1000 genomesrs17849654
hgdprs17849654
ensemblrs17849654
gopubmedrs17849654
geneviewrs17849654
scholarrs17849654
googlers17849654
pharmgkbrs17849654
gwascentralrs17849654
openSNPrs17849654
23andMers17849654
23andMe allrs17849654
SNP Nexus

SNPshotrs17849654
SNPdbers17849654
MSV3drs17849654
GWAS Ctlgrs17849654
GMAF0.3535
Max Magnitude0
Venter snp
Source plos
Gene SLC25A15
allele T
frequency
sift TOLERATED
HuRef 1103649206462
Disease Association 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
SLC25A15-I254L
aa_change Ile254Leu
aa_change_short I254L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.340863
summary



ClinVar
Risk rs17849654(T;T)
Alt rs17849654(T;T)
Reference rs17849654(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SLC25A15 TPTE2P5
CLNDBN not specified
Reversed 0
HGVS NC_000013.10:g.41382711A>T
CLNSRC ClinVar GeneDx
CLNACC RCV000128071.2,