Proband information


Proband id 5060
Systematic Name
(NM_004992.3:)		 c.869_880delinsCACA
Protein name
(NP_004983)		 p.Glu290Alafs*38
Alternate systematic Name
(NM_001110792.1:)		 c.905_916delinsCACA
Alternate Protein name
(NP_001104262)		 p.(Glu302Alafs*38)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296399_153296410delinsTGTG
Mutation type frameshift combined insertion and deletion
Domain TRD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 3,4
Source of DNA blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.869_880delinsCACA p.Glu290Alafs*38 Female Rett syndrome-classical 5060 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346