Proband information

Proband id 2140
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Silent
Domain N-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Cardiff, UK::

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::