CFTR-NGS variants catalogue
Variant hg19:chr7:117201363CT/C
Name | NM_000492.4:c.1584+1664delT |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117201373del UCSC |
#Exon/intron | intron 11 |
Type in CFTR-NGS catalogue | repeat |
Class in CFTR-France | not reported |
WT sequence | GAAGAGGAAGAACATCTTTTTTTTT T CTGATTGCACGGGCAGCCTTAAAAT |
Mutant sequence | GAAGAGGAAGAACATCTTTTTTTTT - CTGATTGCACGGGCAGCCTTAAAAT |
MAF (GnomAD) | 1.88e-01 |
Splicing prediction (SpliceAI) | AG: 0.00 (-17) AL: 0.00 (-41) DG: 0.00 (47) DL: 0.00 (45) |
![]() Not found | ![]() Not found | dbSNP no rs | ![]() Not found | ![]() |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
not verified | not performed |
No patient found in CFTR-France |
TOTAL NUMBER OF INDIVIDUALS | 16 |
---|---|
Asymptomatic | 6 |
CF | 1 |
CFTR-RD | 5
|
Pending (NBS) | 1 |
Suspicion of CF | 3 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m5062 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 3265 | 336 |
8989 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | PASS | 3474 | 371 |
9005 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | PASS | 2583 | 355 |
MUCO07407 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1548 | 166 |
MUCO07319 | Asymptomatic | Montpellier | 100714_varilh | homozygous | PASS | 7422 | 334 |
MUCO07168 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1543 | 211 |
P1B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 6874 | 632 |
5914 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3324 | 439 |
4709 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3987 | 525 |
P1Co | CFTR-RD | Montpellier | 230414_varilh | homozygous | PASS | 22494 | 993 |
3199 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 4858 | 542 |
3641 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 5332 | 552 |
6150 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | PASS | 3880 | 529 |
7648 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 3476 | 324 |
8892 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 1891 | 237 |
P5Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 5444 | 534 |