Variant information


Systematic Name
(NM_004992.3:)
c.229_238del10
Protein name
(NP_004983)
p.Ala77fs
Alternate systematic Name
(NM_001110792.1:)
c.265_274del10
Alternate Protein name
(NP_001104262)
p.(Ala89Profs*45)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297797_153297806del10
Mutation type frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.229_238del10 p.Ala77fs Female Not Known 1713 :Friez, Michael:: View details
2 c.229_238del10 p.Ala77fs Female Rett syndrome-classical 6640 ::: View details