Proband information


Proband id 6993
Systematic Name
(NM_004992.3:)		 c.-138_-134dup
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.23_27dup
Alternate Protein name
(NP_001104262)		 p.(Ser10Argfs*36)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363096_153363100dup
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA blood
Carrier Y
Carrier result denovo,absent in mother and two brothers
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation:Narumi Tokaji, Hiromichi Ito,Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi,Aya Goji,Tatsuo Mori, Yoshihiro Toda, Masako Saito, Shoichiro Tange, Kiyoshi Masuda, Shoji Kagami,Issei Imoto:American Journalof Medical genetics: 29341476

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-138_-134dup p.(=) Male denovo,absent in mother and two brothers Rett syndrome-classical 6993 A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation:Narumi Tokaji, Hiromichi Ito,Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi,Aya Goji,Tatsuo Mori, Yoshihiro Toda, Masako Saito, Shoichiro Tange, Kiyoshi Masuda, Shoji Kagami,Issei Imoto:American Journalof Medical genetics: 29341476