Proband information


Proband id 4085
Systematic Name
(NM_004992.3:)
c.795C>G
Protein name
(NP_004983)
p.Pro265Pro
Alternate systematic Name
(NM_001110792.1:)
c.831C>G
Alternate Protein name
(NP_001104262)
p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296484G>C
Mutation type silent
Domain TRD-NLS
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.795C>G p.Pro265Pro Female de novo Rett syndrome-atypical 4085 :Khajuria, R.::