Proband information


Proband id 2336
Systematic Name
(NM_004992.3:)		 c.994_998delAGCGG
Protein name
(NP_004983)		 p.Ser332fs
Alternate systematic Name
(NM_001110792.1:)		 c.1030_1034delAGCGG
Alternate Protein name
(NP_001104262)		 p.(Ser344Glufs*7)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296281_153296285delCCGCT
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.994_998delAGCGG p.Ser332fs Female Rett syndrome-Atypical 2336 :Cardiff, UK::