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Last update (2026/04/27):
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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| exon 4 | c.368G>A | p.(Ser123Asn) | S123N | Likely pathogenic | To be validated |
| | 2024-10-24 | | | exon 5 | c.550G>A | p.(Gly184Arg) | G184R | Likely pathogenic | To be validated |
| | 2024-10-24 | | | exon 6 | c.638A>G | p.(Asn213Ser) | N213S | Uncertain significance (VUS) | To be validated |
| | 2020-05-19 | | | exon 6 | c.666_667delGT | p.(Tyr223Serfs*2) | Y223Sfs*2 | Pathogenic | To be validated |
| | 2019-04-08 | | | exon 6 | c.675T>G | p.(Asn225Lys) | N225K | Pathogenic | To be validated |
| | 2019-04-08 | |
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