Proband information


Proband id 3341
Systematic Name
(NM_004992.3:)		 c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del]
Protein name
(NP_004983)		 p.Gly335fs
Alternate systematic Name
(NM_001110792.1:)		 c.[1040_1073del;1087_1090del;1095_1108del;1197_*2598del]
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296242_153296275del;153296225_153296228del;153296207_153296220del;153293220_153296118del]
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection gene dosage analysis
Extent exons 3 and 4
Source of DNA not known
Carrier
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del] p.Gly335fs Female Rett syndrome-not certain 3341 Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082