Variant NM_000492.4:c.1210-34_1210-6TG[13]T[5]
Name | NM_000492.4:c.1210-34_1210-6TG[13]T[5] |
#Exon/intron | intron 9 |
Legacy Name | TG13T5 |
Class | disease-causing |
Subclass | varying clinical consequence |
complex allele in 8.51% of patients associated with |
Not found | dbSNP no rs |
Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 94 |
---|---|
Asymptomatic compound heterozygote | 4 |
CF | 7 |
CFTR-RD | 80
|
Pending | 1 |
Pending (NBS) | 2 |
Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CBAVD | 1504 | heterozygote | CFTR-RD-causing- Undef |
CBAVD | 2040 | heterozygote | VUS3- Undef |
CBAVD | 2060 | heterozygote | CF-causing - Trans |
CBAVD | 2114 | heterozygote | CF-causing - Trans |
CBAVD | 2232 | heterozygote | CF-causing - Trans |
CBAVD | 2582 | heterozygote | CFTR-RD-causing- Undef VUS3- Undef |
CBAVD | 4932 | heterozygote | CF-causing - Trans |
CBAVD | 4944 | heterozygote | CF-causing- Undef |
CBAVD | 5704 | heterozygote | CF-causing- Undef |
CBAVD | 1505 | heterozygote | CF-causing - Trans |
CBAVD | 1506 | heterozygote | CF-causing - Trans |
CBAVD | 4971 | heterozygote | CF-causing - Cis CF-causing - Trans |
CBAVD | 1801 | heterozygote | VUS3 - Trans |
CBAVD | 5049 | heterozygote | VUS3- Undef |
CBAVD | 1908 | heterozygote | CF-causing - Trans |
CBAVD | 5393 | heterozygote | CF-causing- Undef |
CBAVD | 2683 | heterozygote | CF-causing - Trans |
CBAVD | 3334 | heterozygote | CFTR-RD-causing - Trans |
CBAVD | 3369 | heterozygote | CF-causing - Trans |
CBAVD | 5591 | heterozygote | CFTR-RD-causing - Trans |
CBAVD | 5325 | heterozygote | VUS3 - Trans |
CBAVD | 5765 | heterozygote | CF-causing- Undef |
CBAVD | 5766 | heterozygote | CFTR-RD-causing - Trans |
CBAVD | 3332 | heterozygote | varying clinical consequence - Trans |
CBAVD | 3295 | heterozygote | CFTR-RD-causing - Trans |
CBAVD | 3293 | heterozygote | CF-causing - Trans |
CBAVD | 2816 | heterozygote | CF-causing - Trans |
CBAVD | 4622 | heterozygote | CF-causing - Trans |
CBAVD | 4663 | heterozygote | CF-causing- Undef |
CBAVD | 4755 | heterozygote | CF-causing - Trans |
CBAVD | 2976 | heterozygote | CF-causing - Trans |
CBAVD | 3280 | heterozygote | CF-causing- Undef |
CBAVD | 3291 | heterozygote | CF-causing - Trans |
CBAVD | 4599 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Trans |
CBAVD | 81 | heterozygote | CF-causing - Trans |
CBAVD | 656 | heterozygote | CF-causing- Undef |
CBAVD | 786 | heterozygote | CF-causing - Trans |
CBAVD | 837 | heterozygote | CF-causing - Trans |
CBAVD | 859 | heterozygote | CF-causing - Trans |
CBAVD | 894 | heterozygote | VUS3 - Trans |
CBAVD | 4828 | heterozygote | CF-causing- Undef |
CBAVD | 5521 | heterozygote | varying clinical consequence- Undef |
CBAVD | 653 | heterozygote | CFTR-RD-causing - Trans varying clinical consequence- Undef |
CBAVD | 4707 | heterozygote | CF-causing- Undef |
CBAVD | 4956 | heterozygote | CFTR-RD-causing- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
CBAVD | 397 | heterozygote | CF-causing - Trans |
CBAVD | 426 | heterozygote | CF-causing - Trans |
CBAVD | 470 | heterozygote | CF-causing - Trans |
CBAVD | 474 | heterozygote | CF-causing - Trans |
CBAVD | 493 | heterozygote | CF-causing - Trans |
CBAVD | 1410 | heterozygote | CF-causing- Undef |
CBAVD | 1417 | heterozygote | CF-causing - Trans |
CBAVD | 1426 | heterozygote | CF-causing - Trans |
CBAVD | 1427 | heterozygote | CF-causing - Trans |
CBAVD | 1431 | heterozygote | CF-causing- Undef |
CBAVD | 1441 | heterozygote | CF-causing - Trans |
CBAVD | 1443 | heterozygote | CF-causing - Trans |
CBAVD | 1445 | heterozygote | VUS3- Undef |
CBAVD | 1450 | heterozygote | CF-causing - Trans |
CBAVD | 1404 | heterozygote | CF-causing - Trans |
CBAVD | 1352 | heterozygote | |
CBAVD | 1333 | heterozygote | CF-causing - Trans |
CBAVD | 1264 | heterozygote | CF-causing - Trans |
CBAVD | 1267 | heterozygote | CF-causing - Trans |
CBAVD | 1274 | heterozygote | CF-causing - Trans |
CBAVD | 1482 | heterozygote | CFTR-RD-causing- Undef |
CBAVD | 1318 | heterozygote | CF-causing - Trans |
CBAVD | 1281 | homozygote | c.1210-34_1210-6TG[13]T[5] - Trans |
CBAVD | 3357 | homozygote | c.1210-34_1210-6TG[13]T[5] - Trans |
CBAVD | 2238 | homozygote | c.1210-34_1210-6TG[13]T[5] - Trans |
CF | 2597 | heterozygote | CF-causing- Undef CF-causing- Undef |
CF | 5373 | heterozygote | CF-causing- Undef |
CF | 2672 | heterozygote | CFTR-RD-causing - Trans |
CF | 570 | heterozygote | CF-causing - Trans |
CF | 4732 | heterozygote | CF-causing - Trans |
CF | 1317 | heterozygote | CF-causing - Trans |
CF | 4871 | heterozygote | CF-causing - Trans |
Other | 2544 | heterozygote | CF-causing - Trans |
Other | 5701 | heterozygote | varying clinical consequence- Undef |
Other | 5677 | heterozygote | CF-causing - Trans |
Other | 5671 | heterozygote | CF-causing - Trans |
Other | 87 | heterozygote | CF-causing - Trans |
Other | 5128 | heterozygote | CF-causing - Trans |
Other | 1089 | heterozygote | |
Pending (NBS) | 646 | heterozygote | CF-causing - Trans |
Pending (NBS) | 1255 | heterozygote | CF-causing - Trans |
Pancreatitis | 5339 | heterozygote | CFTR-RD-causing- Undef |
Pancreatitis | 5949 | heterozygote | CF-causing - Trans |
Pancreatitis | 776 | heterozygote | CF-causing - Trans |
Asymptomatic compound heterozygote | 3333 | heterozygote | varying clinical consequence - Trans |
Asymptomatic compound heterozygote | 3020 | heterozygote | CF-causing - Trans |
Asymptomatic compound heterozygote | 3031 | heterozygote | CF-causing - Trans |
Asymptomatic compound heterozygote | 817 | heterozygote | VUS3 - Trans |
Pending | 1097 | heterozygote | VUS3 - Trans |
Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing |
CFTR variants are clustered into five groups: |
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