Proband information


Proband id 5071
Systematic Name
(NM_004992.3:)		 c.1152_*29del
Protein name
(NP_004983)		 p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu
Alternate systematic Name
(NM_001110792.1:)		 c.1188_*29del
Alternate Protein name
(NP_001104262)		 p.(Pro397_Ser498delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295789_153296127del
Mutation type in-frame 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-atypical
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.1152_*29del p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu Female Rett syndrome-atypical 5071 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