Proband information


Proband id 3356
Systematic Name
(NM_004992.3:)
c.[1129_1133delAAGGCinsGAGT; 1155_1200del46]
Protein name
(NP_004983)
p.Lys377fs
Alternate systematic Name
(NM_001110792.1:)
c.[1165_1169delinsGAGT;1191_1236del46]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296146_153296150delinsACTC;153296079_153296124del46]
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA lymphoblastoid cell lines
Carrier
Carrier result NK
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial NK
Phenotype-class Rett syndrome-not certain
Reference Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1129_1133delAAGGCinsGAGT; 1155_1200del46] p.Lys377fs Female NK Rett syndrome-not certain 3356 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860