Proband information


Proband id 855
Systematic Name
(NM_004992.3:)		 c.[1053_1054ins10; 1145_1199del55]
Protein name
(NP_004983)		 p.Lys352fs
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
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Neither parent has variation, unaffected siblings do not have variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1053_1054ins10; 1145_1199del55] p.Lys352fs Unknown Neither parent has variation, unaffected siblings do not have variation Rett syndrome-Not certain 855 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042