Variant information
Systematic Name (NM_004992.3:) |
c.1114C>T |
---|---|
Protein name (NP_004983) |
p.His372Tyr |
Alternate systematic Name (NM_001110792.1:) |
c.1150C>T |
Alternate Protein name (NP_001104262) |
p.(His384Tyr) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296165G>A |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1114C>T | p.His372Tyr | Female | Not Known | 6575 | ::: | View details |