Proband information


Proband id 919
Systematic Name
(NM_004992.3:)		 c.1163_1216del54
Protein name
(NP_004983)		 p.Pro388_Pro405del
Alternate systematic Name
(NM_001110792.1:)		 c.1199_1252del54
Alternate Protein name
(NP_001104262)		 p.(Pro400_Pro417del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296063_153296116del54
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1163_1216del54 p.Pro388_Pro405del Unknown Rett syndrome-Not certain 919 :::