Variant information


Systematic Name
(NM_004992.3:)		 c.1135_1142del8
Protein name
(NP_004983)		 p.Pro379fs
Alternate systematic Name
(NM_001110792.1:)		 c.1171_1178del8
Alternate Protein name
(NP_001104262)		 p.(Pro391Thrfs*11)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296137_153296144del8
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1135_1142del8 p.Pro379fs Female Not Rett synd. 6669 ::: View details
2 c.1135_1142del8 p.Pro379fs Female Not Rett synd. 6668 ::: View details