*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.
** If you have new data: please send us a re-evaluation proposal here
|
HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
|
|
exon 13 | c.1519C>T | p.(Gln507*) | Q507* | Pathogenic | To be validated |
| | 2023-03-08 | | exon 13 | c.1522T>C | p.(Tyr508His) | Y508H | Pathogenic | To be validated |
| | 2023-03-08 | | exon 13 | c.1523A>T | p.(Tyr508Phe) | Y508F | Pathogenic | To be validated |
| | 2023-03-08 | | exon 13 | c.1524C>G | p.(Tyr508*) | Y508* | Pathogenic | To be validated |
| | 2023-03-08 | |
|