Proband information


Proband id 5061
Systematic Name
(NM_004992.3:)
c.1437G>A
Protein name
(NP_004983)
p.Thr479Thr
Alternate systematic Name
(NM_001110792.1:)
c.1473G>A
Alternate Protein name
(NP_001104262)
p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295842C>T
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism
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.1437G>A p.Thr479Thr Female Rett syndrome-atypical 5061 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