Proband information


Proband id 1845
Systematic Name
(NM_004992.3:)		 c.[777C>T(;)1157_1197del41]
Protein name
(NP_004983)		 p.[Ala259Ala(;)Leu386fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[813C>T;1193_1233del41]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296502G>A;153296082_153296122del41]
Mutation type Silent, frameshift insertion or deletion
Domain TRD-NLS, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DHPLC
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Unaffected mother has silent polymorphism, neither parent has other 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.[777C>T(;)1157_1197del41] p.[Ala259Ala(;)Leu386fs] Female Unaffected mother has silent polymorphism, neither parent has other variation Rett syndrome-Not certain 1845 :Bunyan, D.::