Proband information


Proband id 6584
Systematic Name
(NM_004992.3:)		 c.679C>T
Protein name
(NP_004983)		 p.Gln227*
Alternate systematic Name
(NM_001110792.1:)		 c.715C>T
Alternate Protein name
(NP_001104262)		 p.(Gln239*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296600G>A
Mutation type nonsense
Domain TRD
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 Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.679C>T p.Gln227* Female Rett syndrome-classical 6584 :::