Proband information


Proband id 2150
Systematic Name
(NM_004992.3:)
c.1215C>T
Protein name
(NP_004983)
p.Pro405Pro
Alternate systematic Name
(NM_001110792.1:)
c.1251C>T
Alternate Protein name
(NP_001104262)
p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296064G>A
Mutation type Silent
Domain C-term
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 Female
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.1215C>T p.Pro405Pro Female Mother has variation, unaffected brother has variation Not Rett synd. 2149 :Cardiff, UK::
2 c.1215C>T p.Pro405Pro Female Relative of proband Not Rett synd. 2150 :Cardiff, UK::
3 c.1215C>T p.Pro405Pro Male Relative of proband Not Rett synd. 2151 :Cardiff, UK::