Proband information


Proband id 1603
Systematic Name
(NM_004992.3:)		 c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA]
Protein name
(NP_004983)		 p.Pro376fs
Alternate systematic Name
(NM_001110792.1:)		 c.[1161_1173del13;1174_1299inv;1194_1237del;1299_1300insGGA]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296142_153296154del13;153296016_153296141inv;153296078_153296121del;153296015_153296016insTCC]
Mutation type Frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection dhplc
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 Sporadic
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] p.Pro376fs Female Rett syndrome-Not certain 1603 :Bunyan, D.::