Proband information


Proband id 7002
Systematic Name
(NM_004992.3:)		 c.455C>T
Protein name
(NP_004983)		 p.Pro152Leu
Alternate systematic Name
(NM_001110792.1:)		 c.491C>T
Alternate Protein name
(NP_001104262)		 p.(Pro164Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296824G>A
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 Gender Carrier result Phenotype Proband id Reference
1 c.455C>T p.Pro152Leu Female denovo 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