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CFTR-NGS variants catalogue
Variant hg19:chr7:117295084G/C
| Name | NM_000492.4:c.3963+2099G>C |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117295084G>C UCSC gnomAD |
| #Exon/intron | intron 24 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TGGCTGACTAATATCCCCACTGTCT G AATGCATAGCACCTAGTTTCTGTTG |
| Mutant sequence | TGGCTGACTAATATCCCCACTGTCT C AATGCATAGCACCTAGTTTCTGTTG |
| MAF (GnomAD) | 1.17e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (10) AL: 0.00 (-26) DG: 0.00 (-33) DL: 0.00 (-27) |
 Not found |  Not found | dbSNP rs118156631 |  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 | 6 |
|---|---|
| Asymptomatic | 2 |
| CF | 1 |
| CFTR-RD | 3
|
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m4793 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 1303 | 114 |
| MUCO07318 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 483 | 54 |
| 9777 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 3380 | 299 |
| 3641 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3173 | 316 |
| 6959 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 2379 | 201 |
| m8107 | CFTR-RD | Montpellier | 150419_Altieri | heterozygous | PASS | 3478 | 362 |
