Variant information


Systematic Name
(NM_004992.3:)		 c.[1157_1197del41; 1232_1240del9]
Protein name
(NP_004983)		 p.Leu386fs
Alternate systematic Name
(NM_001110792.1:)		 c.[1193_1233del41;1268_1276del9]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296082_153296122del41;153296039_153296047del9]
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.[1157_1197del41; 1232_1240del9] p.Leu386fs Female Rett syndrome-Classical 384 ::: View details