Proband information


Proband id 1771
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 Fragment containing mutation found in relative
Source of DNA blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
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::