Variant information


Systematic Name
(NM_004992.3:)		 c.1396-?_1397+?del
Protein name
(NP_004983)		 p.?
Alternate systematic Name
(NM_001110792.1:)		 c.1432_1433del
Alternate Protein name
(NP_001104262)		 p.(Met478Alafs*20)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295882_153295883del
Mutation type exonic deletions
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1396-?_1397+?del p.? Female Rett syndrome-classical 3784 Gross rearrangements of the MECP2 gene are found in both classicalal and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801 View details
2 c.1396-?_1397+?del p.? Female Rett syndrome-classical 3785 Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801 View details