Proband information


Proband id 4423
Systematic Name
(NM_004992.3:)		 c.146C>G
Protein name
(NP_004983)		 p.Ser49*
Alternate systematic Name
(NM_001110792.1:)		 c.182C>G
Alternate Protein name
(NP_001104262)		 p.(Ser61*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297889G>C
Mutation type nonsense
Domain N-term
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.146C>G p.Ser49* Female Not Known 4423 :Das, S., Dempsey, M. U. Chicago::