Variant information


Systematic Name
(NM_004992.3:)		 [c.897C>T (+) c.(378_1461)_(378_1461)del]
Protein name
(NP_004983)		 [p.Thr299Thr (+) p.(Asn126+Ser486)fs]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Frameshift insertion or deletion
Domain Not known
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 [c.897C>T (+) c.(378_1461)_(378_1461)del] [p.Thr299Thr (+) p.(Asn126+Ser486)fs] Female Rett syndrome-Classical 2088 :Cardiff, UK:: View details