Proband information


Proband id 2117
Systematic Name
(NM_004992.3:)
c.1223_1265del43
Protein name
(NP_004983)
p.Leu408fs
Alternate systematic Name
(NM_001110792.1:)
c.1259_1301del43
Alternate Protein name
(NP_001104262)
p.(Leu420Serfs*60)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296014_153296056del43
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Atypical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1223_1265del43 p.Leu408fs Female Rett syndrome-Atypical 2117 :Cardiff, UK::