Variant information


Systematic Name
(NM_004992.3:)		 c.994_1346del353
Protein name
(NP_004983)		 p.Ser332fs
Alternate systematic Name
(NM_001110792.1:)		 c.1030_1382del353
Alternate Protein name
(NP_001104262)		 p.(Ser344Valfs*37)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295933_153296285del353
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.994_1346del353 p.Ser332fs Female Rett syndrome-Classical 2335 :Cardiff, UK:: View details