Proband information


Proband id 4395
Systematic Name
(NM_004992.3:)		 c.308G>A
Protein name
(NP_004983)		 p.Gly103Asp
Alternate systematic Name
(NM_001110792.1:)		 c.344G>A
Alternate Protein name
(NP_001104262)		 p.(Gly115Asp)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297727C>T
Mutation type missense
Domain MBD
Pathogenicity Unknown
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-atypical
Reference :Khajuria, R.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.308G>A p.Gly103Asp Female negative Rett syndrome-atypical 4395 :Khajuria, R.::