Proband information


Proband id 2055
Systematic Name
(NM_004992.3:)		 c.[1189G>A(;)*55C>G]
Protein name
(NP_004983)		 "p.Glu397Lys, 3'UTR variation"
Alternate systematic Name
(NM_001110792.1:)		 c.[1225G>A;*55C>G]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296090C>T;153295763G>C]
Mutation type Missense, 3'UTR variation
Domain C-term, 3'UTR
Pathogenicity Polymorphism not causing disease
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 Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1189G>A(;)*55C>G] "p.Glu397Lys, 3'UTR variation" Female Not Known 2055 :::