Proband information


Proband id 406
Systematic Name
(NM_004992.3:)		 c.1450_*12del24
Protein name
(NP_004983)		 p.Val485_Ser486delins21
Alternate systematic Name
(NM_001110792.1:)		 c.1486_*12del24
Alternate Protein name
(NP_001104262)		 p.(Val497_Ser498delinsIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295806_153295829del24
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
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, Father 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.1450_*12del24 p.Val485_Ser486delins21 Female Mother is not carrier, Father is not carrier Rett syndrome-Atypical 406 :::