Variant information


Systematic Name
(NM_004992.3:)		 c.-102_-101delGA
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.59_60delGA
Alternate Protein name
(NP_001104262)		 p.(Arg20Thrfs*21)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363063_153363064delTC
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.-102_-101delGA p.(=) Female Rett syndrome-classical 2781 A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1:Chunshu, Y., Endoh, K., Soutome, M., Kawamura, R., Kubota, T.:Clinical Sciences: 17101000 View details