Variant information


Systematic Name
(NM_004992.3:)		 c.[964C>G(;)*98dupA]
Protein name
(NP_004983)		 p.Pro322Ala
Alternate systematic Name
(NM_001110792.1:)		 c.[1000C>G;*98dupA]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296315G>C;153295720dupT]
Mutation type missense, 3'UTR variation
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[964C>G(;)*98dupA] p.Pro322Ala Female Rett syndrome-classical 6346 ::: View details