Proband information


Proband id 1856
Systematic Name
(NM_004992.3:)
c.1161_1205del45insA
Protein name
(NP_004983)
p.Pro389*
Alternate systematic Name
(NM_001110792.1:)
c.1197_1241delinsA
Alternate Protein name
(NP_001104262)
p.(Pro401*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296074_153296118delinsT
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 Y
Carrier result Neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
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.1161_1205del45insA p.Pro389* Female Neither parent has variation Rett syndrome-Not certain 1856 :Bunyan, D.::