Proband information


Proband id 1
Systematic Name
(NM_004992.3:)
c.1235_1260del26
Protein name
(NP_004983)
p.Val412fs
Alternate systematic Name
(NM_001110792.1:)
c.1271_1296del26
Alternate Protein name
(NP_001104262)
p.(Val424Glyfs*15)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296019_153296044del26
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA Blood
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1235_1260del26 p.Val412fs Female Rett syndrome-Not certain 1 :Bunyan, D.::