Proband information


Proband id 1895
Systematic Name
(NM_004992.3:)		 c.792_793delTC
Protein name
(NP_004983)		 p.Pro265fs
Alternate systematic Name
(NM_001110792.1:)		 c.828_829delTC
Alternate Protein name
(NP_001104262)		 p.(Pro277Glnfs*65)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296486_153296487delGA
Mutation type Frameshift insertion or deletion
Domain TRD-NLS
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.792_793delTC p.Pro265fs Female Rett syndrome-Not certain 1895 :::