Proband information


Proband id 1907
Systematic Name
(NM_004992.3:)
c.1012_1193del182
Protein name
(NP_004983)
p.Thr338fs
Alternate systematic Name
(NM_001110792.1:)
c.1048_1229del182
Alternate Protein name
(NP_001104262)
p.(Thr350Profs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296086_153296267del182
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1012_1193del182 p.Thr338fs Female Rett syndrome-Not certain 1907 :::