Proband information


Proband id 3786
Systematic Name
(NM_004992.3:)		 c.631-?_657+?del
Protein name
(NP_004983)		 p.?
Alternate systematic Name
(NM_001110792.1:)		 c.667_693del
Alternate Protein name
(NP_001104262)		 p.(Arg223_Lys231del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296622_153296648del
Mutation type exonic deletion
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 45 chromosomes tested and not found in 45 chromosomes
Detection qRT-PCR
Extent exon 4
Source of DNA blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication:Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A:Human Mutation: 15241799

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.631-?_657+?del p.? Female Rett syndrome-classical 3786 Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication:Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A:Human Mutation: 15241799