Variant information


Systematic Name
(NM_004992.3:)		 c.1132G>T
Protein name
(NP_004983)		 p.Ala378Ser
Alternate systematic Name
(NM_001110792.1:)		 c.1168G>T
Alternate Protein name
(NP_001104262)		 p.(Ala390Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296147C>A
Mutation type missense
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1132G>T p.Ala378Ser Female Not Rett synd. 6581 ::: View details
2 c.1132G>T p.Ala378Ser Male Not Rett synd. 6580 ::: View details