Proband information


Proband id 131
Systematic Name
(NM_004992.3:)		 c.[752C>T];[1038_1191del154]
Protein name
(NP_004983)		 p.[Pro251Leu];[Ser346fs]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Missense, frameshift insertion or deletion
Domain TRD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 186 chromosomes tested and not found in 186 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Unaffected father 57 is carrier of P251L, unaffected 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.[752C>T];[1038_1191del154] p.[Pro251Leu];[Ser346fs] Unknown Unaffected father 57 is carrier of P251L, unaffected mother is not carrier Rett syndrome-Not certain 131 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