Proband information


Proband id 2128
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 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::