SLC3A1 - Gene browser

SLC3A1

solute carrier family 3 member 1

HCNC Approved Symbol: SLC3A1 (HGNC:11025)
Genomic Coordinates: 2:44,275,480 - 44,322,437 (2p21)
Synonyms: CSNU1, D2H, RBAT, ATR1, NBAT
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the SLC3A1 gene.

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

014
Patient count

Cystinuria: 13 (92.9%)
Patient Count: 13 (92.9%)
% of total patients presenting each phenotype is shown in parentheses.
13 (92.9%)
Bladder stones: 6 (42.9%)
Patient Count: 6 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
6 (42.9%)
Renal stones: 5 (35.7%)
Patient Count: 5 (35.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (35.7%)
Kidney stones: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Nephrolithiasis: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)