Variant information
Systematic Name (NM_004992.3:) |
c.1081C>G |
---|---|
Protein name (NP_004983) |
p.Pro361Ala |
Alternate systematic Name (NM_001110792.1:) |
c.1117C>G |
Alternate Protein name (NP_001104262) |
p.(Pro373Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296198G>C |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1081C>G | p.Pro361Ala | Female | Not Known | 2154 | :Cardiff, UK:: | View details |
2 | c.1081C>G | p.Pro361Ala | Female | Not Rett synd. | 2155 | :Cardiff, UK:: | View details |
3 | c.1081C>G | p.Pro361Ala | Male | Not Known | 2156 | :Cardiff, UK:: | View details |
4 | c.1081C>G | p.Pro361Ala | Female | Not Rett synd. | 2157 | :Cardiff, UK:: | View details |