SLC19A3 - Gene browser

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.

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

04
Patient count

Hypotonia: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Seizures: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Ataxia: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Dysdiadochokinesia: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Intention tremor: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)