Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
De novo and transmitted LOF variants in SF3B2 identified in kindreds with CFM.
| Gene | NM_006842.2 nucleotide change | Protein impact | gnomAD frequency | pLI |
|---|---|---|---|---|
| SF3B2 | A1T | M1? (startloss) | Novel | 1.00 |
| SF3B2 | C307T | Q103X | Novel | 1.00 |
| SF3B2 | 1608dupG | R537AfsX24 | Novel | 1.00 |
| SF3B2 | 1780-2delA | IVS15-2delA | Novel | 1.00 |
| SF3B2 | C1912T | R638X | Novel | 1.00 |
| SF3B2 | 2329dupG | D776EfsX4 | Novel | 1.00 |
| SF3B2 | 2480dupC | A827RfsX5 | Novel | 1.00 |
pLI probability of LOF intolerance.
