Proband information


Proband id 3914
Systematic Name
(NM_004992.3:)		 c.1455_1456dupTA
Protein name
(NP_004983)		 p.Ser486fs
Alternate systematic Name
(NM_001110792.1:)		 c.1491_1492dupTA
Alternate Protein name
(NP_001104262)		 p.(Ser498Ilefs*27)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295823_153295824dupTA
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 50 chromosomes tested and not found in 50 chromosomes
Detection SSCP
Extent 90% coding region
Source of DNA blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :Khajuria, R.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1455_1456dupTA p.Ser486fs Female Rett syndrome-classical 3914 :Khajuria, R.::