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ERCC5

ERCC excision repair 5, endonuclease

HCNC Approved Symbol
ERCC5 (HGNC:3437)
Genomic Coordinates
13:102,846,032 - 102,875,995 (13q33.1)
Synonyms
ERCM2, XPGC
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the ERCC5 gene.

Frequently observed phenotypes

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

Arthrogryposis
 1 (25.0%)
Acute constipation
 1 (25.0%)
Delayed milestones
 1 (25.0%)
Freckles
 1 (25.0%)
Ataxia
 1 (25.0%)
ERCC5 - Gene browser | 3billion