CNOT3 Chromosome 19
CCR4-NOT transcription complex subunit 3
Upload your DNA to see your personal genotypes for variants in CNOT3.
What This Gene Does
Involved in regulation of stem cell population maintenance. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
CCR4-NOT transcription complex
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000088038
Associated Conditions (11)
Intellectual developmental disorder with speech delay
autism
and dysmorphic facies
CNOT3-related disorder
Inborn genetic diseases
Moyamoya angiopathy with developmental delay
Complex neurodevelopmental disorder
Ovarian serous cystadenocarcinoma
Intellectual disability
CNOT3-associated disorder
See cases
Key Variants
RS1238165628
Conflicting classifications of pathogenicity
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Health Risk
RS1406807767
Conflicting classifications of pathogenicity
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Health Risk
RS142721836
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149108037
Conflicting classifications of pathogenicity
Moyamoya angiopathy with developmental delay, Inborn genetic diseases, Complex neurodevelopmental disorder
Health Risk
RS200757074
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2146595244
Conflicting classifications of pathogenicity
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Health Risk
RS2517346791
Conflicting classifications of pathogenicity
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Health Risk
RS370457959
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372481652
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS587707561
Conflicting classifications of pathogenicity
Health Risk
RS587744329
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61743560
Conflicting classifications of pathogenicity
Ovarian serous cystadenocarcinoma, Intellectual developmental disorder with speech delay, autism
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1238165628 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS1406807767 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS142721836 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149108037 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya angiopathy with developmental delay, Inborn genetic diseases, Complex neurodevelopmental disorder |
| RS200757074 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2146595244 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2517346791 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS370457959 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372481652 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS587707561 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587744329 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61743560 | Health Risk | Conflicting classifications of pathogenicity | Ovarian serous cystadenocarcinoma, Intellectual developmental disorder with speech delay, autism |
| RS753475896 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS766226888 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767913658 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS771212010 | Health Risk | Conflicting classifications of pathogenicity | CNOT3-related disorder, Intellectual developmental disorder with speech delay, autism |
| RS772101793 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Complex neurodevelopmental disorder, Inborn genetic diseases |
| RS2074521998 | Health Risk | Likely pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2074547544 | Health Risk | Likely pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2074638284 | Health Risk | Likely pathogenic | Moyamoya angiopathy with developmental delay, Moyamoya angiopathy with developmental delay |
| RS2074949880 | Health Risk | Likely pathogenic | Moyamoya angiopathy with developmental delay, Moyamoya angiopathy with developmental delay |
| RS2146595285 | Health Risk | Likely pathogenic | — |
| RS2146646096 | Health Risk | Likely pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2514263759 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2514436908 | Health Risk | Likely pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2514644148 | Health Risk | Likely pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2517256882 | Health Risk | Likely pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2517294280 | Health Risk | Likely pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS587767936 | Health Risk | Likely pathogenic | — |
| RS775489140 | Health Risk | Likely pathogenic | — |
| RS1213228037 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS1555806893 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1600471396 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS1600501018 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS1600504088 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS1600514073 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2074797352 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2075208108 | Health Risk | Pathogenic | — |
| RS2075273330 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2146638782 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2146758722 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2514116435 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2514223066 | Health Risk | Pathogenic | See cases, See cases |
| RS2517168002 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2517525537 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2517595954 | Health Risk | Pathogenic | — |
| RS2517611666 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2518058484 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2518137990 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| RS2518542445 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |