Variant information


Systematic Name
(NM_004992.3:)		 c.[488_995del508;1061_1062delGC;1229_1240del12]
Protein name
(NP_004983)		 p.Gly163Alafs*5
Alternate systematic Name
(NM_001110792.1:)		 c.[524_1031del508;1097_1098delGC;1265_1276del12]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296284_153296791del508;153296217_153296218delGC;153296039_153296050del12]
Mutation type in-frame insertion or deletion, frameshift insertion or deletion
Domain inter-domain region, TRD, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[488_995del508;1061_1062delGC;1229_1240del12] p.Gly163Alafs*5 Female Rett syndrome-not certain 5248 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 View details