From: Novel pathogenic variants in CUBN uncouple proteinuria from renal function
Chromosome position | MAF | Base | Gene | Function | Type of mutation | ClinVar assessment | Inheritance |
---|---|---|---|---|---|---|---|
(amino acid) | |||||||
chr10:16961987 | 0.000077 | c.6796C > T | CUBN | Nonsense | Germline | Not listed | Father |
(p.R2266X) | |||||||
chr10:17026232 | 0.000077 | c.4397G > A | CUBN | Missense | Germline | Not listed | Mother |
(p.C1466Y) | |||||||
chr10:169 | – | c.5153_5154delCT | CUBN | Frame shift | Germline | Not listed | Father |
90531–16990533 | (p.S1718X) | ||||||
chr10:16961959 | 0.0013 | c.6821 + 3A > G | CUBN | Splice variant | Germline | Not listed | Mother |
(splicing) | Â |