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 : c.438delC (p.T147Rfs*22) found in a patient together with c.442C>T (p.R148X) in trans
| Title : The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations - Lumish_2014_JIMD.Rep_16_75 |
| Author(s) : Lumish HS , Yang Y , Xia F , Wilson A , Chung WK |
| Ref : JIMD Rep , 16 :75 , 2014 |
| Abstract : Lumish_2014_JIMD.Rep_16_75 |
| ESTHER : Lumish_2014_JIMD.Rep_16_75 |
| PubMedSearch : Lumish_2014_JIMD.Rep_16_75 |
| PubMedID: 24997715 |
| Gene_locus related to this paper: human-SERAC1 |