Proband information


Proband id 2061
Systematic Name
(NM_004992.3:)		 c.1239C>T
Protein name
(NP_004983)		 p.Cys413Cys
Alternate systematic Name
(NM_001110792.1:)		 c.1275C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296040G>A
Mutation type Silent
Domain C-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Father has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1239C>T p.Cys413Cys Female Father has variation Not Known 2061 :::
2 c.1239C>T p.Cys413Cys Male Relative of proband Not Rett synd. 2062 :::