Proband information
Proband id |
1729 |
Systematic Name (NM_004992.3:) |
c.210C>T |
Protein name (NP_004983) |
p.Ser70Ser |
Alternate systematic Name (NM_001110792.1:) |
c.246C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297825G>A |
Mutation type |
Silent |
Domain |
N-term |
Pathogenicity |
Silent polymorphism |
Evidence of Pathogenicity |
|
Detection |
direct |
Extent |
Exons 2-4 |
Source of DNA |
blood |
Carrier |
Y |
Carrier result |
Father is carrier |
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
Not known |
Phenotype-class |
Not Known |
Reference |
:Friez, Michael:: |
Matching entries in the proband database
No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.210C>T |
p.Ser70Ser |
Female |
Father is carrier |
Not Known |
1729 |
:Friez, Michael:: |
2 |
c.210C>T |
p.Ser70Ser |
Male |
Relative of proband |
Not Known |
1737 |
:Friez, Michael:: |
3 |
c.210C>T |
p.Ser70Ser |
Female |
Father is carrier |
Not Known |
1763 |
:Friez, Michael:: |
4 |
c.210C>T |
p.Ser70Ser |
Male |
Relative of proband |
Not Known |
1771 |
:Friez, Michael:: |