Proband information


Proband id 3816
Systematic Name
(NM_004992.3:)		 c.1284C>T
Protein name
(NP_004983)		 p.Gly428Gly
Alternate systematic Name
(NM_001110792.1:)		 c.1320C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295995G>A
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity 40 chromosomes tested and not found in 40 chromosomes
Detection SSCP
Extent 80% of MECP2
Source of DNA blood
Carrier NC
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :Khajuria, R::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1284C>T p.Gly428Gly Female Rett syndrome-classical 3816 :Khajuria, R::