Proband information


Proband id 4479
Systematic Name
(NM_004992.3:)		 c.736_743delinsGTG
Protein name
(NP_004983)		 p.Met246fs
Alternate systematic Name
(NM_001110792.1:)		 c.772_779delinsGTG
Alternate Protein name
(NP_001104262)		 p.(Met258Valfs*11)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296536_153296543delinsCAC
Mutation type frameshift combined insertion and deletion
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.736_743delinsGTG p.Met246fs Female Not Known 4479 :Das, S., Dempsey, M. U. Chicago::