p.Arg1624Trp
· 3 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Arg1624Trp | “Renal biopsy confirmed immune complex-mediated MPGN (IC-MPGN), and genetic testing revealed a homozygous, pathogenic missense PKHD1 variant (NM_138694.3:c.4870C > T; p.(Arg1624Trp), leading to a diagnosis of autosomal recessive polycystic kidney disease (ARPKD).” | 0.95 | hgvs_regex_v1 |
| variant | p.Arg1624Trp | “Four potential pathogenic variants [c.4870C>T, p.(Arg1624Trp)], [c.5725C>T, p.(Arg1909Trp)], c.1736C>T, p.(Thr579Met)] and [(c.10628T>G), p.(Leu3543Trp)] were observed in PKHD1 gene among 12 out of 18 samples.” | 0.95 | hgvs_regex_v1 |
| variant | p.Arg1624Trp | “The results identified four potential pathogenic variants in PKHD1 gene [c.4870C > T, p.(Arg1624Trp), c.5725C > T, p.(Arg1909Trp), c.1736C > T, p.(Thr579Met) and c.10628T > G, p.(Leu3543Trp)] among 12 out of 18 samples.” | 0.95 | hgvs_regex_v1 |