Variant information

Systematic Name c.215C>T
Protein name p.Pro72Leu
Mutation type Missense
Domain N-term
Pathogenicity Unknown

Proband information

Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Cardiff, UK::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.215C>T p.Pro72Leu Missense N-term Unknown Male Not Known 2139 :Cardiff, UK::