Proband information


Proband id 3414
Systematic Name
(NM_004992.3:)		 c.[1051_1065del15; 1088_1115del28; 1138_1207del70]
Protein name
(NP_004983)		 p.[Pro351_Ser355del; Lys363fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[1087_1101del15;1124_1151del28;1174_1243del70]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296214_153296228del15;153296164_153296191del28;153296072_153296141del70]
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exon 4
Source of DNA blood
Carrier
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1051_1065del15; 1088_1115del28; 1138_1207del70] p.[Pro351_Ser355del; Lys363fs] Female Rett syndrome-not certain 3414 Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972