Variant information


Systematic Name c.752C>G
Protein name p.Pro251Arg
Mutation type missense
Domain TRD
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection MPS
Extent
Number of chromosomes checked
Carrier status checked Yes
Carrier result "mother not a carrier,father not tested"
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.752C>G p.Pro251Arg missense TRD Unknown Female Not Known 6903 :::