Variant: rs145999922 

    present in Gene: SLC19A3
    present in Chromosome: 2
    Position on Chromosome: 227699378
    Alleles of this Variant: A/G

rs145999922 in SLC19A3 gene and Basal ganglia disease, biotin-responsive PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 26863430 2016 Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.

rs145999922 in SLC19A3 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs145999922 in SLC19A3 gene and Global developmental delay PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs145999922 in SLC19A3 gene and Seizures PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.