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
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 :::