Proband information
Proband id | 3787 |
---|---|
Systematic Name (NM_004992.3:) |
c.631-?_657+?dup |
Protein name (NP_004983) |
p.? |
Alternate systematic Name (NM_001110792.1:) |
c.667_693dup |
Alternate Protein name (NP_001104262) |
p.(Arg223_Lys231dup) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296622_153296648dup |
Mutation type | exonic duplication |
Domain | MBD |
Pathogenicity | Unknown |
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-preserved speech |
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+?dup | p.? | Female | Rett syndrome-preserved speech | 3787 | 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 |