Variant information



Systematic Name c.-168-?_*?dup
Protein name p.Met1?
Mutation type In-frame insertion or deletion
Domain N-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1971
2 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1972
3 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1982
4 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1983
5 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1984
6 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1985
7 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1986
8 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1987
9 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1988
10 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1989
11 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1990
12 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1991
13 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1992
14 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Male Not Rett synd. 1993
15 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1994
16 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1995
17 c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Female Not Rett synd. 1996