Variant information


Systematic Name
(NM_004992.3:)		 c.1316C>T
Protein name
(NP_004983)		 p.Ala439Val
Alternate systematic Name
(NM_001110792.1:)		 c.1352C>T
Alternate Protein name
(NP_001104262)		 p.(Ala451Val)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295963G>A
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1316C>T p.Ala439Val Female Not Rett synd. 6909 ::: View details