Proband information


Proband id 3784
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
Evidence of Pathogenicity
Detection MLPA
Extent exons 1-4
Source of DNA not known
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
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
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