Proband information


Proband id 4475
Systematic Name
(NM_004992.3:)		 c.686C>A
Protein name
(NP_004983)		 p.Ser229*
Alternate systematic Name
(NM_001110792.1:)		 c.722C>A
Alternate Protein name
(NP_001104262)		 p.(Ser241*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296593G>T
Mutation type nonsense
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Known
Reference :Das, S., Dempsey, M. U. Chicago::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.686C>A p.Ser229* Female Not Known 4475 :Das, S., Dempsey, M. U. Chicago::