Variant information


Systematic Name
(NM_004992.3:)
c.-114_-104dup11
Protein name
(NP_004983)
p.(=)
Alternate systematic Name
(NM_001110792.1:)
c.47_57dup11
Alternate Protein name
(NP_001104262)
p.(Arg20Alafs*28)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153363066_153363076dup11
Mutation type frameshift insertion or deletion
Domain exon 1
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.-114_-104dup11 p.(=) Female Rett syndrome-classical 6624 ::: View details