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 :
NM_032861 c.262_265dup (p.Gly89fs) rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in the patient and heterozygous genotype in her unaffected parents
| Title : Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome - Zamani_2020_Basic.Clin.Neurosci_11_549 |
| Author(s) : Zamani M , Seifi T , Zeighami J , Mazaheri N , Jahangirnezhad E , Gholamzadeh M , Sedaghat A , Shariati G , Galehdari H |
| Ref : Basic Clin Neurosci , 11 :549 , 2020 |
| Abstract : |
| PubMedSearch : Zamani_2020_Basic.Clin.Neurosci_11_549 |
| PubMedID: 33613893 |
| Gene_locus related to this paper: human-SERAC1 |