Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL syndrome
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 :
two compound heterozygous variants in the SERAC1 gene: a nonsense substitution in exon 4, c.202C>T, resulting in a premature stop codon (p.Arg68*), and a novel variant at a canonical splicing site upstream exon 4 (c.129-1G>C)
| Title : Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome - Snanoudj_2019_Mol.Genet.Genomic.Med_7_e815 |
| Author(s) : Snanoudj S , Mordel P , Dupas Q , Schanen C , Arion A , Gerard M , Read MH , Nait Rabah D , Goux D , Chapon F , Jokic M , Allouche S |
| Ref : Mol Genet Genomic Med , 7 :e815 , 2019 |
| Abstract : |
| PubMedSearch : Snanoudj_2019_Mol.Genet.Genomic.Med_7_e815 |
| PubMedID: 31251474 |
| Gene_locus related to this paper: human-SERAC1 |