Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.210C>T p.Ser70Ser Female Not Known 1729 :Friez, Michael:: View details
2 c.210C>T p.Ser70Ser Male Not Known 1737 :Friez, Michael:: View details
3 c.210C>T p.Ser70Ser Female Not Known 1763 :Friez, Michael:: View details
4 c.210C>T p.Ser70Ser Male Not Known 1771 :Friez, Michael:: View details