SLC17A5 - Gene browser

SLC17A5

solute carrier family 17 member 5

HCNC Approved Symbol: SLC17A5 (HGNC:10933)
Genomic Coordinates: 6:73,593,379 - 73,653,992 (6q13)
Synonyms: AST, SD, ISSD, NSD, SIALIN, SLD, SIASD
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the SLC17A5 gene.

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

01
Patient count

Ataxia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Delayed ability to walk: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Delayed speech and language development: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Developmental delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Distal muscle weakness: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)