Variant information


Systematic Name
(NM_004992.3:)		 c.302C>T
Protein name
(NP_004983)		 p.Pro101Leu
Alternate systematic Name
(NM_001110792.1:)		 c.338C>T
Alternate Protein name
(NP_001104262)		 p.(Pro113Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297733G>A
Mutation type Missense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.302C>T p.Pro101Leu Female Rett syndrome-Classical 2168 :Cardiff, UK:: View details