Variant information


Systematic Name c.455C>T
Protein name p.Pro152Leu
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection WES
Extent
Number of chromosomes checked
Carrier status checked Yes
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 References
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