Variant information



Systematic Name c.27-?_*?del
Protein name p.Arg9fs
Mutation type exon deletions
Domain N-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Not certain 1918
2 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Not certain 1919
3 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2071
4 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2072
5 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Atypical 2077
6 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2078
7 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2079
8 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2080
9 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Atypical 2500
10 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2535
11 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2536
12 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2537
13 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 2789
14 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 2791
15 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 2904
16 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 2908
17 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 2909
18 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3331
19 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3332
20 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3333
21 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3334
22 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3335
23 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3336
24 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3337
25 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3338
26 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3339
27 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3353
28 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3615
29 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3616
30 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3617
31 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 3767
32 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 3775
33 c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 3776