Proband information


Proband id 2025
Systematic Name
(NM_004992.3:)		 c.[397C>T(;)1061G>T]
Protein name
(NP_004983)		 p.[Arg133Cys(;)Arg354Leu]
Alternate systematic Name
(NM_001110792.1:)		 c.[433C>T;1097G>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296882G>A;153296218C>A]
Mutation type Missense
Domain MBD, C-term
Pathogenicity Mutation associated with 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.[397C>T(;)1061G>T] p.[Arg133Cys(;)Arg354Leu] Female Not Known 2025 :::