Proband information


Proband id 423
Systematic Name
(NM_004992.3:)		 c.[1104C>T; 1107_1327del221]
Protein name
(NP_004983)		 p.[His368His;His370fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[1140C>T;1143_1363del221]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296175G>A;153295952_153296172del221]
Mutation type Silent, 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 Y
Carrier result Mother is not carrier, 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.[1104C>T; 1107_1327del221] p.[His368His;His370fs] Female Mother is not carrier, Father is not carrier Rett syndrome-Atypical 423 :::