Patient | Confirmed HAE type | Identified variant in SERPING1 (reference gene NM_000062.2), dbSNP | Found in n index individuals (n total) | Pathogenicity | Reported beforea | Patient characteristics | ||
---|---|---|---|---|---|---|---|---|
Age | Gender | Attacks per 12Â months | ||||||
1 | II | c.1396C > T,p.(Arg466Cys), rs28940870 | 1 | Pathogenic | Not reported in ClinVar Mentioned in 12 manuscripts | 63 | Female | 2 |
2 | I | c.550G > A, p.(Gly184Arg), rs281875170 | 1 | Pathogenic | Clinvar ID:79,144 Mentioned in 26 manuscripts | 53 | Female | 48 |
3 | I | c.1195C > T p.(Pro399Ser) | 1 | Pathogenic | Not reported in ClinVar (21,22) | 55 | Female | 50 |
4 | I | c.1312del, p.(Val438PhefsTer12) | 1(2) | Likely pathogenic | Novel variant | 34 | Female | 8 |
5 | 62 | Female | 10 | |||||
6 | I | c.1249 + 4A > G, p.? | 1 (2) | Likely pathogenic | Novel variant | 35 | Female | 60 |
7 | 58 | Female | 48 | |||||
8 | I | [GRCh38] chr11:g.57600729_57603011del | 1 | Pathogenic | Novel variant | 32 | Male | 2 |