Gene Locus : human-cb069, human-cb069, human-cb069
Mode of mutation : Natural mutant
Disease : Combined oxidative phosphorylation deficiency-53 (COXPD53)
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
Werren et al. (2023) identified a frameshift variant c.187_191dupGCCGA, p.D64Efs*56 in an individual with clinical presentation of COXPD53 with developmental regression and autistic features
| Title : A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia - Werren_2023_Am.J.Med.Genet.A_191_2446 |
| Author(s) : Werren EA , Srinivasan VM , Gowda VK , Pandey A , Vaish S , Kabbur AR , Nandeesh BN , Srivastava A |
| Ref : American Journal of Medicine Genet A , 191 :2446 , 2023 |
| Abstract : |
| PubMedSearch : Werren_2023_Am.J.Med.Genet.A_191_2446 |
| PubMedID: 37337918 |
| Gene_locus related to this paper: human-cb069 |
| Title : A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia - Werren_2023_Am.J.Med.Genet.A_191_2446 |
| Author(s) : Werren EA , Srinivasan VM , Gowda VK , Pandey A , Vaish S , Kabbur AR , Nandeesh BN , Srivastava A |
| Ref : American Journal of Medicine Genet A , 191 :2446 , 2023 |
| Abstract : |
| PubMedSearch : Werren_2023_Am.J.Med.Genet.A_191_2446 |
| PubMedID: 37337918 |
| Gene_locus related to this paper: human-cb069 |
| Title : A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia - Werren_2023_Am.J.Med.Genet.A_191_2446 |
| Author(s) : Werren EA , Srinivasan VM , Gowda VK , Pandey A , Vaish S , Kabbur AR , Nandeesh BN , Srivastava A |
| Ref : American Journal of Medicine Genet A , 191 :2446 , 2023 |
| Abstract : |
| PubMedSearch : Werren_2023_Am.J.Med.Genet.A_191_2446 |
| PubMedID: 37337918 |
| Gene_locus related to this paper: human-cb069 |