Variant information


Systematic Name
(NM_004992.3:)		 c.1193A>C
Protein name
(NP_004983)		 p.Asp398Ala
Alternate systematic Name
(NM_001110792.1:)		 c.1229A>C
Alternate Protein name
(NP_001104262)		 p.(Asp410Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296086T>G
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.1193A>C p.Asp398Ala Male Not Rett synd. 6910 ::: View details