Proband information


Proband id 4181
Systematic Name
(NM_004992.3:)		 c.295_297delACC
Protein name
(NP_004983)		 p.Thr99del
Alternate systematic Name
(NM_001110792.1:)		 c.331_333delACC
Alternate Protein name
(NP_001104262)		 p.(Thr111del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297738_153297740delGGT
Mutation type in-frame insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations N
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.295_297delACC p.Thr99del Female de novo Rett syndrome-classical 4181 :::