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SLC19A3

solute carrier family 19 member 3

HCNC Approved Symbol
SLC19A3 (HGNC:16266)
Genomic Coordinates
2:227,683,763 - 227,718,028 (2q36.3)
Synonyms
THTR2, thTr-2, hTHTR2
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the SLC19A3 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Hypotonia
 1 (25.0%)
Seizures
 1 (25.0%)
Ataxia
 1 (25.0%)
Dysdiadochokinesia
 1 (25.0%)
Intention tremor
 1 (25.0%)
SLC19A3 - Gene browser | 3billion