Variant information


Systematic Name
(NM_004992.3:)
complex rearrangement
Protein name
(NP_004983)
complex rearrangement
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Not known
Domain Not known
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 complex rearrangement complex rearrangement Female Rett syndrome-Classical 2070 :Cardiff, UK:: View details