*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 4 | c.383G>A | p.(Arg128His) | R128H | Likely pathogenic | To be validated |
| | 2020-02-13 | 2021-01-22 | exon 9 | c.947G>A | p.(Arg316His) | R316H | Likely pathogenic | To be validated |
| |
2020-02-13 | 2021-01-22 | exon 12 | c.1330T>A | p.(Tyr444Asn) | Y444N | Likely pathogenic | To be validated |
| |
2020-02-13 | 2021-01-22 |
|