Variant information


Systematic Name
(NM_004992.3:)		 c.[401C>G; 1168_1173del6]
Protein name
(NP_004983)		 p.[Ser134Cys; Pro390_Pro391del]
Alternate systematic Name
(NM_001110792.1:)		 c.[437C>G;1204_1209del6]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296878G>C;153296106_153296111del6]
Mutation type missense, in-frame insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[401C>G; 1168_1173del6] p.[Ser134Cys; Pro390_Pro391del] Female Rett syndrome-classical 6613 ::: View details