Proband information


Proband id 24
Systematic Name
(NM_004992.3:)		 c.1065C>T
Protein name
(NP_004983)		 p.Ser355Ser
Alternate systematic Name
(NM_001110792.1:)		 c.1101C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296214G>A
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 c.1065C>T p.Ser355Ser Female Rett syndrome-Not certain 24 :Bunyan, D.::