Proband information


Proband id 4671
Systematic Name
(NM_004992.3:)		 c.[=/360T>G]
Protein name
(NP_004983)		 p.[=/Tyr120*]
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 coding region
Source of DNA blood, skin
Carrier Y
Carrier result not in mother
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male:Pieras, J.I., Muņoz-cabello, B., Borrego, S., Marcos, I., Sanchez, J., Madruga, M., Antiņolo, G.:Brain & Development: 20970936

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[=/360T>G] p.[=/Tyr120*] Male not in mother Rett syndrome-atypical 4671 Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male:Pieras, J.I., Muņoz-cabello, B., Borrego, S., Marcos, I., Sanchez, J., Madruga, M., Antiņolo, G.:Brain & Development: 20970936