Proband information


Proband id 2129
Systematic Name
(NM_004992.3:)		 c.690A>C
Protein name
(NP_004983)		 p.Pro230Pro
Alternate systematic Name
(NM_001110792.1:)		 c.726A>C
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296589T>G
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection Not known
Extent Not known
Source of DNA Blood or skin
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.690A>C p.Pro230Pro Female Father has variation Not Known 2128 :Cardiff, UK::
2 c.690A>C p.Pro230Pro Male Relative of proband Not Rett synd. 2129 :Cardiff, UK::