Proband information


Proband id 384
Systematic Name
(NM_004992.3:)
c.[1157_1197del41; 1232_1240del9]
Protein name
(NP_004983)
p.Leu386fs
Alternate systematic Name
(NM_001110792.1:)
c.[1193_1233del41;1268_1276del9]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296082_153296122del41;153296039_153296047del9]
Mutation type Frameshift 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 N
Carrier result
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.[1157_1197del41; 1232_1240del9] p.Leu386fs Female Rett syndrome-Classical 384 :::