Proband information


Proband id 4513
Systematic Name
(NM_004992.3:)		 c.943_1140del198ins6
Protein name
(NP_004983)		 p.Glu315_Val380delins2
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type in-frame combined insertion and deletion
Domain C-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.943_1140del198ins6 p.Glu315_Val380delins2 Female Not Known 4513 :Das, S., Dempsey, M. U. Chicago::