Variant information


Systematic Name
(NM_004992.3:)		 c.[455C>G(;)683C>G]
Protein name
(NP_004983)		 p.[Pro152Arg(;)Thr228Ser]
Alternate systematic Name
(NM_001110792.1:)		 c.[491C>G;719C>G]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296824G>C;153296596G>C]
Mutation type missense
Domain MBD, TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[455C>G(;)683C>G] p.[Pro152Arg(;)Thr228Ser] Female Rett syndrome-classical 3910 :Khajuria, R.:: View details