Variant information


Systematic Name
(NM_004992.3:)		 c.1123_1202del80
Protein name
(NP_004983)		 p.Ser375fs
Alternate systematic Name
(NM_001110792.1:)		 c.1159_1238del80
Alternate Protein name
(NP_001104262)		 p.(Ser387Profs*3)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296077_153296156del80
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.1123_1202del80 p.Ser375fs Female Rett syndrome-Not certain 1863 :Bunyan, D.:: View details