Proband information


Proband id 4079
Systematic Name
(NM_004992.3:)		 c.1278C>T
Protein name
(NP_004983)		 p.Ser426Ser
Alternate systematic Name
(NM_001110792.1:)		 c.1314C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296001G>A
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity 50 chromosomes tested and not found in 50 chromosomes
Detection SSCP
Extent 90% coding sequence
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference :Khajuria, R.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1278C>T p.Ser426Ser Female de novo Rett syndrome-atypical 4079 :Khajuria, R.::