Variant information


Systematic Name
(NM_004992.3:)		 c.480_481delTG
Protein name
(NP_004983)		 p.Gly161fs
Alternate systematic Name
(NM_001110792.1:)		 c.516_517delTG
Alternate Protein name
(NP_001104262)		 p.(Gly173Glufs*13)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296798_153296799delCA
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.480_481delTG p.Gly161fs Female Rett syndrome-Atypical 443 ::: View details