Proband information


Proband id 6899
Systematic Name
(NM_004992.3:)
c.-116_-114dup
Protein name
(NP_004983)
p.(=)
Alternate systematic Name
(NM_001110792.1:)
c.45_47dup
Alternate Protein name
(NP_001104262)
p.(Gly16dup)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153363076_153363078dup
Mutation type in-frame insertion or deletion
Domain N-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection MPS
Extent
Source of DNA blood
Carrier NA
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
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.-116_-114dup p.(=) Male Not Known 6899 :::