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CFTR-NGS variants catalogue
Variant hg19:chr7:117269793A/C
| Name | NM_000492.4:c.3717+1969A>C |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117269793A>C UCSC gnomAD |
| #Exon/intron | intron 22 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | CTGTTGAGGCCTCGTGAGAGAGCTT A ATCTAAAACAATGACTTCCTATAAT |
| Mutant sequence | CTGTTGAGGCCTCGTGAGAGAGCTT C ATCTAAAACAATGACTTCCTATAAT |
| MAF (GnomAD) | 3.24e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-31) AL: 0.00 (2) DG: 0.00 (-28) DL: 0.00 (2) |
 Not found |  Not found | dbSNP rs147968679 |  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 | 5 |
|---|---|
| Asymptomatic | 2 |
| CF | 2 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 9878 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | PASS | 4190 | 367 |
| T8 | Asymptomatic | Montpellier | 160218_varilh | homozygous | PASS | 5907 | 195 |
| 9877 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 4223 | 334 |
| 9879 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 2536 | 218 |
| m9730 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 664 | 171 |
