Variant information


Systematic Name
(NM_004992.3:)		 c.108_111delAGAA
Protein name
(NP_004983)		 p.Glu37fs
Alternate systematic Name
(NM_001110792.1:)		 c.144_147delAGAA
Alternate Protein name
(NP_001104262)		 p.(Glu49Argfs*87)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297924_153297927delTTCT
Mutation type Frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.108_111delAGAA p.Glu37fs Female Rett syndrome-Not certain 1857 :Bunyan, D.:: View details
2 c.108_111delAGAA p.Glu37fs Female Rett syndrome-Not certain 1876 ::: View details