Proband information


Proband id 1179
Systematic Name
(NM_004992.3:)
c.1158_1186del29
Protein name
(NP_004983)
p.Pro387fs
Alternate systematic Name
(NM_001110792.1:)
c.1194_1222del29
Alternate Protein name
(NP_001104262)
p.(Pro399Argfs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296093_153296121del29
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier Y
Carrier result Neither parent has variation
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Preserved speech
Reference Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1158_1186del29 p.Pro387fs Female Neither parent has variation Rett syndrome-Preserved speech 1179 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022