Proband information


Proband id 5249
Systematic Name
(NM_004992.3:)		 c.[401C>G;1168_1173del6]
Protein name
(NP_004983)		 p.[Ser134Cys;Pro390_Pro391del]
Alternate systematic Name
(NM_001110792.1:)		 c.[437C>G;1204_1209del6]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296878G>C;153296106_153296111del6]
Mutation type missense, in-frame insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent not stated
Source of DNA blood
Carrier Y
Carrier result father positive for c.1168_1173del6, p.S134C de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[401C>G;1168_1173del6] p.[Ser134Cys;Pro390_Pro391del] Female father positive for c.1168_1173del6, p.S134C de novo Rett syndrome-not certain 5249 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494