Variant information


Systematic Name
(NM_004992.3:)		 c.-159T>C
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.2T>C
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363121A>G
Mutation type missense
Domain N-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.-159T>C p.(=) Female Rett syndrome-classical 6343 ::: View details