Proband information


Proband id 435
Systematic Name
(NM_004992.3:)		 c.[897C>T(;)1155_1200del46]
Protein name
(NP_004983)		 p.[Thr299Thr(;)Leu386fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[933C>T;1191_1236del46]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296382G>A;153296079_153296124del46]
Mutation type Silent, frameshift insertion or deletion
Domain TRD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 0 chromosomes
Detection dhplc
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is carrier of silent polymorphism, 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.[897C>T(;)1155_1200del46] p.[Thr299Thr(;)Leu386fs] Female Mother is carrier of silent polymorphism, Father is not carrier Rett syndrome-Atypical 435 :::