Proband information


Proband id 2160
Systematic Name
(NM_004992.3:)		 c.474G>A
Protein name
(NP_004983)		 p.Thr158Thr
Alternate systematic Name
(NM_001110792.1:)		 c.510G>A
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296805C>T
Mutation type Silent
Domain MBD
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.474G>A p.Thr158Thr Female Rett syndrome-Not certain 15 :Bunyan, D.::
2 c.474G>A p.Thr158Thr Female Father has variation Not Known 2160 :Cardiff, UK::
3 c.474G>A p.Thr158Thr Male Relative of proband Not Rett synd. 2161 :Cardiff, UK::