Variant information


Systematic Name
(NM_004992.3:)		 c.[1103_1172del; 1185_1191del]
Protein name
(NP_004983)		 p.His368fs
Alternate systematic Name
(NM_001110792.1:)		 c.[1139_1208del;1221_1227del]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296107_153296176del;153296088_153296094del]
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1103_1172del; 1185_1191del] p.His368fs Unknown Rett syndrome-Not certain 852 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 View details