Proband information


Proband id 450
Systematic Name
(NM_004992.3:)
c.812_818del7
Protein name
(NP_004983)
p.Lys271fs
Alternate systematic Name
(NM_001110792.1:)
c.848_854del7
Alternate Protein name
(NP_001104262)
p.(Lys283Argfs*16)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296461_153296467del7
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 0 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother not thought to be carrier
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.812_818del7 p.Lys271fs Female Mother not thought to be carrier Rett syndrome-Classical 450 :::