SLC44A1 - Gene browser | 3billion

SLC44A1

SLC44A1

solute carrier family 44 member 1

HCNC Approved Symbol: SLC44A1 (HGNC:18798)
Genomic Coordinates: 9:105,244,651 - 105,438,504 (9q31.1-q31.2)
Synonyms: CTL1, CHTL1, CD92, CDW92
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the SLC44A1 gene.

Frequently observed phenotypes(Top 5 only)

(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%)
Neurodevelopmental regression: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

SLC44A1 - Gene browser | 3billion