Variant information



Systematic Name c.*14G>A
Protein name 3'UTR variation
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.*14G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Female Rett syndrome-not certain 5226
2 c.*14G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Female Not Rett synd. 6666
3 c.*14G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Female Rett syndrome-forme fruste 6665