Variant information


Systematic Name
(NM_004992.3:)		 c.478dupA
Protein name
(NP_004983)		 p.Thr160fs
Alternate systematic Name
(NM_001110792.1:)		 c.514dupA
Alternate Protein name
(NP_001104262)		 p.(Thr172Asnfs*15)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296801dupT
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.478dupA p.Thr160fs Female Rett syndrome-classical 6637 ::: View details