Proband information


Proband id 4396
Systematic Name
(NM_004992.3:)		 c.274G>T
Protein name
(NP_004983)		 p.Gly92*
Alternate systematic Name
(NM_001110792.1:)		 c.310G>T
Alternate Protein name
(NP_001104262)		 p.(Gly104*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297761C>A
Mutation type nonsense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 50 chromosomes tested and not found in 50 chromosomes
Detection direct
Extent 90% coding sequence of MECP2
Source of DNA blood
Carrier Y
Carrier result negative
Other mutations N
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.274G>T p.Gly92* Female negative Rett syndrome-classical 4396 :Khajuria, R.::