Proband information


Proband id 1873
Systematic Name
(NM_004992.3:)		 c.611_612delinsAG
Protein name
(NP_004983)		 p.Ser204*
Alternate systematic Name
(NM_001110792.1:)		 c.647_648delinsAG
Alternate Protein name
(NP_001104262)		 p.(Ser216*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296667_153296668delinsCT
Mutation type frameshift combined insertion and deletion
Domain Inter-domain region
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DHPLC
Extent Exons 2-4
Source of DNA Blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
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.611_612delinsAG p.Ser204* Female Rett syndrome-Not certain 1873 :Bunyan, D.::