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CTPS1

CTP synthase 1

HCNC Approved Symbol
CTPS1 (HGNC:2519)
Genomic Coordinates
1:40,979,696 - 41,012,565 (1p34.2)
Synonyms
GATD5A, CTPS
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Immunodeficiency 24
615897AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the CTPS1 gene.

Frequently observed phenotypes

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

No Results