Variant information


Systematic Name c.1023_*14472del14911
Protein name p.Ser341fs
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Not known
Detection MLPA
Extent Exons 1-4
Evidence of Pathogenicity
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1023_*14472del14911 p.Ser341fs In-frame insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2533 Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379