Variant information
Systematic Name (NM_004992.3:) |
c.-168-?_26+?del (deletion exons 1 and 2) |
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Protein name (NP_004983) |
p.Met1? |
Alternate systematic Name (NM_001110792.1:) |
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Alternate Protein name (NP_001104262) |
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Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
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Mutation type | exon deletions |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.-168-?_26+?del (deletion exons 1 and 2) | p.Met1? | Female | Rett syndrome-congenital | 4600 | Early infantile onset congenital Rett syndrome variants: Swedish experience through four decades and mutation analysis:Rajaei, S., Erlandson, A., Kyllerman, M., Albage, M., Lundstrom, I., Karrstedt, E.-L., Hagberg, B.:Journal of Child Neurology: 21212452 | View details |