Variant information


Systematic Name
(NM_004992.3:)		 c.812_818del7
Protein name
(NP_004983)		 p.Lys271fs
Alternate systematic Name
(NM_001110792.1:)		 c.848_854del7
Alternate Protein name
(NP_001104262)		 p.(Lys283Argfs*16)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296461_153296467del7
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.812_818del7 p.Lys271fs Female Rett syndrome-Classical 450 ::: View details