Proband information


Proband id 3780
Systematic Name
(NM_004992.3:)
c.1017-?_1397+?del
Protein name
(NP_004983)
p.?
Alternate systematic Name
(NM_001110792.1:)
c.1053_1433del
Alternate Protein name
(NP_001104262)
p.(Cys351_Met478delinsTrp)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295882_153296262del
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-atypical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1017-?_1397+?del p.? Female Rett syndrome-atypical 3780 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