|
*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 1 | c.41T>C | p.(Phe14Ser) | F14S | Pathogenic | To be validated |
| | 2020-01-22 | 2021-01-22 | | intron 1 | c.56+1G>A | p.? | c.56+1G>A | Uncertain significance (VUS) | To be validated |
| | 2023-03-08 | | | exon 3 | c.166G>C | p.(Asp56His) | D56H | Pathogenic | To be validated |
| | 2024-03-22 | | | exon 6 | c.500G>A | p.(Gly167Asp) | G167D | Likely pathogenic | To be validated |
| | 2023-11-28 | | | exon 7 | c.601G>C | p.(Gly201Arg) | G201R | Pathogenic | To be validated |
| | 2024-03-22 | | | exon 7 | c.601G>A | p.(Gly201Arg) | G201R_GA | Pathogenic | To be validated |
| | 2023-02-07 | 2024-03-22 | | intron 7 | c.710+1G>C | p.? | p.? | Likely pathogenic | To be validated |
| | 2023-11-28 | |
|
