Proband information


Proband id 149
Systematic Name
(NM_004992.3:)		 c.752C>T
Protein name
(NP_004983)		 p.Pro251Leu
Alternate systematic Name
(NM_001110792.1:)		 c.788C>T
Alternate Protein name
(NP_001104262)		 p.(Pro263Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296527G>A
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 186 chromosomes tested and not found in 186 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Unaffected family member
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.752C>T p.Pro251Leu Male Relative of proband Not Rett synd. 149 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