Proband information

Proband id 2128
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
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 :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::