Proband information


Proband id 9
Systematic Name
(NM_004992.3:)		 uncertain
Protein name
(NP_004983)		 p.Ile314Ile
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Silent
Domain C-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection
Extent
Source of DNA Blood
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 uncertain p.Ile314Ile Female Rett syndrome-Not certain 9 :Bunyan, D.::