Proband information


Proband id 6672
Systematic Name
(NM_004992.3:)
c.1053_1156del104
Protein name
(NP_004983)
p.Lys352fs
Alternate systematic Name
(NM_001110792.1:)
c.1089_1192del104
Alternate Protein name
(NP_001104262)
p.(Lys364Alafs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296123_153296226del104
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1053_1156del104 p.Lys352fs Female Rett syndrome-classical 6672 :::