Proband information


Proband id 23
Systematic Name
(NM_004992.3:)		 c.1104_1106del3
Protein name
(NP_004983)		 p.His372del
Alternate systematic Name
(NM_001110792.1:)		 c.1140_1142del3
Alternate Protein name
(NP_001104262)		 p.(His384del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296173_153296175del3
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection
Extent
Source of DNA Blood
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1104_1106del3 p.His372del Female Rett syndrome-Not certain 23 :Bunyan, D.::