Proband information


Proband id 329
Systematic Name
(NM_004992.3:)		 c.398G>T
Protein name
(NP_004983)		 p.Arg133Leu
Alternate systematic Name
(NM_001110792.1:)		 c.434G>T
Alternate Protein name
(NP_001104262)		 p.(Arg145Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296881C>A
Mutation type Missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection SSCP
Extent
Source of DNA Blood
Carrier Y
Carrier result Neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Classical
Reference Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.398G>T p.Arg133Leu Female Neither parent has variation Rett syndrome-Classical 329 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091