Proband information


Proband id 6668
Systematic Name
(NM_004992.3:)
c.1135_1142del8
Protein name
(NP_004983)
p.Pro379fs
Alternate systematic Name
(NM_001110792.1:)
c.1171_1178del8
Alternate Protein name
(NP_001104262)
p.(Pro391Thrfs*11)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296137_153296144del8
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-mental retardation
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1135_1142del8 p.Pro379fs Female Not Rett synd. 6669 :::
2 c.1135_1142del8 p.Pro379fs Female Not Rett synd. 6668 :::