Proband information


Proband id 1434
Systematic Name
(NM_004992.3:)		 c.[423C>G];[=]
Protein name
(NP_004983)		 p.[Tyr141*];[=]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Nonsense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Variation not found in parents, variation not found in sister
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Male variant
Reference Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene:Schwartzman, J. S., Bernardino, Andrea, Nishimura, Agnes, Gomes, Raquel R. and Zatz, Mayana:Neuropediatrics: 11521215

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[423C>G];[=] p.[Tyr141*];[=] Male Variation not found in parents, variation not found in sister Rett syndrome-Male variant 1434 Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene:Schwartzman, J. S., Bernardino, Andrea, Nishimura, Agnes, Gomes, Raquel R. and Zatz, Mayana:Neuropediatrics: 11521215