CHN1 Chromosome 2
Chimerin 1
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What This Gene Does
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. [provided by RefSeq, Apr 2011]
Gene Info
Gene Group
"Rho GTPase activating proteins|SH2 domain containing"
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000128656
Associated Conditions (3)
Duane retraction syndrome 2
Oromandibular-limb hypogenesis spectrum
Autosomal dominant Robinow syndrome 2
Key Variants
RS146313212
Conflicting classifications of pathogenicity
Duane retraction syndrome 2, Duane retraction syndrome 2
Health Risk
RS377261893
Conflicting classifications of pathogenicity
Duane retraction syndrome 2, Duane retraction syndrome 2
Health Risk
RS527929031
Conflicting classifications of pathogenicity
Duane retraction syndrome 2, Duane retraction syndrome 2
Health Risk
RS760529847
Conflicting classifications of pathogenicity
Health Risk
RS1558939623
Likely pathogenic
Health Risk
RS2468987994
Likely pathogenic
Oromandibular-limb hypogenesis spectrum, Oromandibular-limb hypogenesis spectrum
Health Risk
RS121912792
Pathogenic
Duane retraction syndrome 2, Duane retraction syndrome 2
Health Risk
RS121912793
Pathogenic
Duane retraction syndrome 2, Duane retraction syndrome 2
Health Risk
RS121912794
Pathogenic
Duane retraction syndrome 2, Duane retraction syndrome 2
Health Risk
RS121912795
Pathogenic
Duane retraction syndrome 2, Duane retraction syndrome 2
Health Risk
RS121912796
Pathogenic
Duane retraction syndrome 2, Duane retraction syndrome 2
Health Risk
RS121912797
Pathogenic
Duane retraction syndrome 2, Duane retraction syndrome 2
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146313212 | Health Risk | Conflicting classifications of pathogenicity | Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS377261893 | Health Risk | Conflicting classifications of pathogenicity | Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS527929031 | Health Risk | Conflicting classifications of pathogenicity | Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS760529847 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1558939623 | Health Risk | Likely pathogenic | — |
| RS2468987994 | Health Risk | Likely pathogenic | Oromandibular-limb hypogenesis spectrum, Oromandibular-limb hypogenesis spectrum |
| RS121912792 | Health Risk | Pathogenic | Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912793 | Health Risk | Pathogenic | Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912794 | Health Risk | Pathogenic | Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912795 | Health Risk | Pathogenic | Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912796 | Health Risk | Pathogenic | Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912797 | Health Risk | Pathogenic | Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS121912798 | Health Risk | Pathogenic | Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS1553475005 | Health Risk | Pathogenic | Duane retraction syndrome 2, Duane retraction syndrome 2 |
| RS1684730153 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS387906599 | Health Risk | Pathogenic | Duane retraction syndrome 2, Duane retraction syndrome 2 |