Proband information


Proband id 843
Systematic Name
(NM_004992.3:)		 c.620dupT
Protein name
(NP_004983)		 p.Gln208fs
Alternate systematic Name
(NM_001110792.1:)		 c.656dupT
Alternate Protein name
(NP_001104262)		 p.(Gln220Alafs*28)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296659dupA
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection SSCP
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Not present in mother
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.620dupT p.Gln208fs Unknown Not present in mother Rett syndrome-Classical 843 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514