Proband information


Proband id 1915
Systematic Name
(NM_004992.3:)		 c.*122delT
Protein name
(NP_004983)		 3'UTR variation
Alternate systematic Name
(NM_001110792.1:)		 c.*122delT
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295696delA
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
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.*122delT 3'UTR variation Female Rett syndrome-Not certain 1915 :::