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CHN1

Synonyms
ARHGAP2, CHN, DURS2, NC, RHOGAP2
External resources
Summary
This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
815
Likely benign
969
Benign
5,453

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CHN1 gene.

Phenotype class
Patients in 3billion (%)

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