Variant information

Systematic Name
c.26+25171_13878del50531ins14 (exons 3 and 4 deleted)
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Frameshift combined insertion and deletion
Domain N-term
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.26+25171_13878del50531ins14 (exons 3 and 4 deleted) p.Arg9fs Female Rett syndrome-Classical 2532 Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379 View details