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CTC1

CST telomere replication complex component 1

HCNC Approved Symbol
CTC1 (HGNC:26169)
Genomic Coordinates
17:8,224,815 - 8,248,056 (17p13.1)
Synonyms
FLJ22170, AAF132, C17orf68
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the CTC1 gene.

Frequently observed phenotypes

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

Anaemia
 2 (100.0%)
Cerebral calcification
 2 (100.0%)
Encephalopathy
 2 (100.0%)
Infections, recurrent
 2 (100.0%)
Intrauterine growth retardation
 2 (100.0%)
CTC1 - Gene browser | 3billion