Proband information


Proband id 2041
Systematic Name
(NM_004992.3:)		 c.[880C>T(;)*9G>A]
Protein name
(NP_004983)		 "p.Arg294*, 3'UTR variation"
Alternate systematic Name
(NM_001110792.1:)		 c.[916C>T;*9G>A]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296399G>A;153295809C>T]
Mutation type Nonsense, 3'UTR variation
Domain TRD, 3'UTR
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Neither parent has R294X mutation, mother has 1461*9G>A variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[880C>T(;)*9G>A] "p.Arg294*, 3'UTR variation" Female Neither parent has R294X mutation, mother has 1461*9G>A variation Not Known 2041 :::