Proband information


Proband id 2101
Systematic Name
(NM_004992.3:)
c.27-9A>G
Protein name
(NP_004983)
intronic variation
Alternate systematic Name
(NM_001110792.1:)
c.63-9A>G
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153298017T>C
Mutation type Intronic variation
Domain Intronic
Pathogenicity Unknown
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.27-9A>G intronic variation Female Rett syndrome-Classical 2101 :Cardiff, UK::