Variant information


Systematic Name
(NM_004992.3:)
c.[1161_1166del6; 1180_1205del26]
Protein name
(NP_004983)
p.[Pro390_Pro391del; Glu394fs]
Alternate systematic Name
(NM_001110792.1:)
c.[1197_1202del6;1216_1241del26]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296113_153296118del6;153296074_153296099del26]
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.[1161_1166del6; 1180_1205del26] p.[Pro390_Pro391del; Glu394fs] Female Rett syndrome-classical 6675 ::: View details