Proband information


Proband id 1872
Systematic Name
(NM_004992.3:)		 c.748_753del6insGGCCG
Protein name
(NP_004983)		 p.Arg250fs
Alternate systematic Name
(NM_001110792.1:)		 c.784_789delinsGGCCG
Alternate Protein name
(NP_001104262)		 p.(Arg262Glyfs*39)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296526_153296531delinsCGGCC
Mutation type Frameshift combined insertion and deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DHPLC
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Neither parent has variation
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.748_753del6insGGCCG p.Arg250fs Female Neither parent has variation Rett syndrome-Not certain 1872 :Bunyan, D.::