CDC42BPB Chromosome 14
CDC42 binding protein kinase beta
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What This Gene Does
This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
CDC42 binding protein kinase family
Locus Type
gene with protein product
Location
14q32.32
Ensembl
ENSG00000198752
Associated Conditions (6)
CDC42BPB-related neurodevelopmental syndrome
Inborn genetic diseases
Chilton-Okur-Chung neurodevelopmental syndrome
Neurodevelopmental disorder
Autism spectrum disorder
CDC42BPB-related disorder
Key Variants
RS1198710710
Conflicting classifications of pathogenicity
CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
Health Risk
RS562551309
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1016320330
Likely pathogenic
CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
Health Risk
RS1346688931
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1595127294
Likely pathogenic
CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome, Autism spectrum disorder
Health Risk
RS1595208914
Likely pathogenic
CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
Health Risk
RS1595450125
Likely pathogenic
CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
Health Risk
RS1595450393
Likely pathogenic
CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
Health Risk
RS1595472739
Likely pathogenic
CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
Health Risk
RS1595472741
Likely pathogenic
CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
Health Risk
RS1595472756
Likely pathogenic
CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
Health Risk
RS1595476797
Likely pathogenic
CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1198710710 | Health Risk | Conflicting classifications of pathogenicity | CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome |
| RS562551309 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1016320330 | Health Risk | Likely pathogenic | CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome |
| RS1346688931 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1595127294 | Health Risk | Likely pathogenic | CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome, Autism spectrum disorder |
| RS1595208914 | Health Risk | Likely pathogenic | CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome |
| RS1595450125 | Health Risk | Likely pathogenic | CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome |
| RS1595450393 | Health Risk | Likely pathogenic | CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome |
| RS1595472739 | Health Risk | Likely pathogenic | CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome |
| RS1595472741 | Health Risk | Likely pathogenic | CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome |
| RS1595472756 | Health Risk | Likely pathogenic | CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome |
| RS1595476797 | Health Risk | Likely pathogenic | CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome |
| RS1595482918 | Health Risk | Likely pathogenic | CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome |
| RS2139400485 | Health Risk | Likely pathogenic | — |
| RS2503747057 | Health Risk | Likely pathogenic | Chilton-Okur-Chung neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome |
| RS2542842943 | Health Risk | Likely pathogenic | Chilton-Okur-Chung neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome |
| RS2542847763 | Health Risk | Likely pathogenic | Chilton-Okur-Chung neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome |
| RS2542847797 | Health Risk | Likely pathogenic | Chilton-Okur-Chung neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome |
| RS2542861023 | Health Risk | Likely pathogenic | — |
| RS2139363710 | Health Risk | Pathogenic | — |
| RS2139609624 | Health Risk | Pathogenic | — |
| RS2542890913 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1595472764 | Health Risk | Pathogenic/Likely pathogenic | CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related disorder, Chilton-Okur-Chung neurodevelopmental syndrome |