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Last update (2026/10/07):
• To be consistent with MANE select, the transcript has been updated from NM_003639.4 to NM_001099857.5.
• 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
|
HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
|
|
| intron 4 | c.519-23A>C | p.Ala174_Lys224del | c.519-23A>C | Pathogenic | To be validated |
| | 2022-02-11 | | | intron 4 | c.519-23A>T | p.Ala174_Lys224del | c.519-23A>T | Pathogenic | To be validated |
| | 2023-07-11 | 2024-09-09 | | intron 4 | c.519-19_519-2del | p.Ala174_Lys224del | c.519-19_519-2del | Pathogenic | To be validated |
| | 2024-09-09 | 2026-06-12 | | intron 4 | c.519-11C>G | p.Ala174_Lys224del | c.519-11C>G | Pathogenic | To be validated |
| | 2022-03-17 | 2022-07-07 | | intron 4 | c.519-2A>G | p.Ala174_Lys224del | c.519-2A>G | Pathogenic | To be validated |
| | 2020-02-17 | 2023-03-08 | | exon 5 | c.597G>A | p.(Val199=) | V199V | Pathogenic | To be validated |
| | 2020-02-17 | 2023-03-08 | | exon 5 | c.613C>T | p.(Gln205*) | Q205* | Pathogenic | To be validated |
| | 2022-08-10 | 2024-12-26 | | intron 5 | c.671+1G>C | p.Ala174_Lys224del | c.671+1G>C | Pathogenic | To be validated |
| | 2022-02-11 | 2022-03-20 | | intron 5 | c.671+2T>G | p.Ala174_Lys224del | c.671+2T>G | Likely pathogenic | To be validated |
| | 2020-02-17 | 2023-03-08 | | intron 5 | c.671+3G>C | p.Ala174_Lys224del | c.671+3G>C | Pathogenic | To be validated |
| | 2022-05-23 | 2023-03-08 | | intron 5 | c.671+4_671+5del | p.Ala174_Lys224del | c.671+4_671+5del | Pathogenic | To be validated |
| | 2024-09-09 | 2024-09-09 | | intron 5 | c.671+5G>A | p.Ala174_Lys224del | c.671+5G>A | Pathogenic | To be validated |
| | 2020-02-17 | 2023-03-08 |
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