Proband information


Proband id 6676
Systematic Name
(NM_004992.3:)		 c.[1104_1106del3(;) 1157_1197del41]
Protein name
(NP_004983)		 p.[His372del(;) Leu386fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[1140_1142del3;1193_1233del41]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296173_153296175del3;153296082_153296122del41]
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 Y
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.[1104_1106del3(;) 1157_1197del41] p.[His372del(;) Leu386fs] Female Rett syndrome-classical 6676 :::