Proband information


Proband id 443
Systematic Name
(NM_004992.3:)		 c.480_481delTG
Protein name
(NP_004983)		 p.Gly161fs
Alternate systematic Name
(NM_001110792.1:)		 c.516_517delTG
Alternate Protein name
(NP_001104262)		 p.(Gly173Glufs*13)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296798_153296799delCA
Mutation type Frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 0 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Atypical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.480_481delTG p.Gly161fs Female Mother is not carrier Rett syndrome-Atypical 443 :::