Proband information


Proband id 4386
Systematic Name
(NM_004992.3:)		 c.900_908del
Protein name
(NP_004983)		 p.Leu301_Ile303del
Alternate systematic Name
(NM_001110792.1:)		 c.936_944del
Alternate Protein name
(NP_001104262)		 p.(Leu313_Ile315del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296371_153296379del
Mutation type in-frame insertion or deletion
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result absent in mother
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-forme fruste
Reference Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.900_908del p.Leu301_Ile303del Female absent in mother Rett syndrome-forme fruste 4386 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356