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Last update (2026/09/08):
The genomic reference sequence has been updated from GRCh37 to GRCh38.
*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
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HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
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| intron 9 | c.1016-5T>C | - | c.1016-5T>C | Uncertain significance (VUS) | To be validated |
| | 2026-03-30 | | | exon 13 | c.1545C>A | p.(Tyr515*) | Y515* | Pathogenic | To be validated |
| | 2024-05-27 | |
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