Proband information


Proband id 466
Systematic Name
(NM_004992.3:)		 c.1403_1408del6
Protein name
(NP_004983)		 p.Arg468_Pro469del
Alternate systematic Name
(NM_001110792.1:)		 c.1439_1444del6
Alternate Protein name
(NP_001104262)		 p.(Arg480_Pro481del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295871_153295876del6
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 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-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1403_1408del6 p.Arg468_Pro469del Female Mother is not carrier Rett syndrome-Classical 466 :::