Variant information


Systematic Name
(NM_004992.3:)		 c.1153_1190del38
Protein name
(NP_004983)		 p.Pro385fs
Alternate systematic Name
(NM_001110792.1:)		 c.1189_1226del38
Alternate Protein name
(NP_001104262)		 p.(Pro397Glyfs*7)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296089_153296126del38
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.1153_1190del38 p.Pro385fs Female Rett syndrome-Not certain 18 :Bunyan, D.:: View details