Variant information
Systematic Name (NM_004992.3:) |
c.1023_*14472del14911 |
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Protein name (NP_004983) |
p.Ser341fs |
Alternate systematic Name (NM_001110792.1:) |
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Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153281346_153296256del14911 |
Mutation type | In-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1023_*14472del14911 | p.Ser341fs | 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 | View details |