Proband information



Proband id 7002
Systematic Name c.455C>T
Protein name p.Pro152Leu
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection WES
Extent
Source of DNA blood
Carrier Y
Carrier result denovo
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-autism only
Reference Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation:Zhu Wen, Tian-Lin Cheng, Gai-zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du and Zilong Qiu:Molecular Autism: 28785396

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.455C>T p.Pro152Leu missense MBD Mutation associated with disease Female Not Rett synd. 7002 Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation:Zhu Wen, Tian-Lin Cheng, Gai-zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du and Zilong Qiu:Molecular Autism: 28785396