Proband information


Proband id 1629
Systematic Name
(NM_004992.3:)		 c.26+2T>A
Protein name
(NP_004983)		 intronic variation
Alternate systematic Name
(NM_001110792.1:)		 c.62+5421T>A
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153357640A>T
Mutation type Intronic variation
Domain Intronic
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection dhplc
Extent Exons 2-4
Source of DNA Blood
Carrier N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
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.26+2T>A intronic variation Female Rett syndrome-Not certain 1629 :Bunyan, D.::