Proband information


Proband id 147
Systematic Name
(NM_004992.3:)		 c.168C>T
Protein name
(NP_004983)		 p.Pro56Pro
Alternate systematic Name
(NM_001110792.1:)		 c.204C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297867G>A
Mutation type Silent
Domain N-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.168C>T p.Pro56Pro Unknown Mother is not carrier Rett syndrome-Not certain 147 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
2 c.168C>T p.Pro56Pro Male Not Known 1794 :Friez, Michael::
3 c.168C>T p.Pro56Pro Male Not Known 2140 :Cardiff, UK::