Proband information


Proband id 6638
Systematic Name
(NM_004992.3:)		 c.506_507dupAG
Protein name
(NP_004983)		 p.Gln170fs
Alternate systematic Name
(NM_001110792.1:)		 c.542_543dupAG
Alternate Protein name
(NP_001104262)		 p.(Gln182Serfs*41)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296772_153296773dupCT
Mutation type frameshift insertion or deletion
Domain Inter-domain
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-inf enceph
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.506_507dupAG p.Gln170fs Male Not Rett synd. 6638 :::