Proband information


Proband id 5063
Systematic Name
(NM_004992.3:)		 c.1101_1201del101
Protein name
(NP_004983)		 p.His367fs
Alternate systematic Name
(NM_001110792.1:)		 c.1137_1237del101
Alternate Protein name
(NP_001104262)		 p.(His379Glnfs*4)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296078_153296178del101
Mutation type frameshift insertion or deletion
Domain 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.1101_1201del101 p.His367fs Unknown Neither parent has variation, unaffected siblings do not have variation Rett syndrome-Not certain 853 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
2 c.1101_1201del101 p.His367fs Female Rett syndrome-classical 5063 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