Variant information


Systematic Name c.[377+22C>G; 378-74C>T]
Protein name intronic variation
Mutation type Intronic variation
Domain Intronic
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Mother is homozygous for 378-74C>T
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.[377+22C>G; 378-74C>T] intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Known 2029 :::