Proband information


Proband id 1713
Systematic Name
(NM_004992.3:)		 c.229_238del10
Protein name
(NP_004983)		 p.Ala77fs
Alternate systematic Name
(NM_001110792.1:)		 c.265_274del10
Alternate Protein name
(NP_001104262)		 p.(Ala89Profs*45)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297797_153297806del10
Mutation type Frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Friez, Michael::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.229_238del10 p.Ala77fs Female Not Known 1713 :Friez, Michael::
2 c.229_238del10 p.Ala77fs Female Rett syndrome-classical 6640 :::