CFTR-NGS variants catalogue
Variant hg19:chr7:117214274G/A
Name | NM_000492.4:c.1585-13519G>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117214274G>A UCSC gnomAD |
#Exon/intron | intron 11 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TTTTATGTTAAATCAAATAGAGAAA G CCAAACACTAATAATGTGGTTACAA |
Mutant sequence | TTTTATGTTAAATCAAATAGAGAAA A CCAAACACTAATAATGTGGTTACAA |
MAF (GnomAD) | 3.71e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (42) AL: 0.00 (-3) DG: 0.00 (41) DL: 0.00 (-5) |
Not found | Not found | dbSNP rs530611728 | 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 | 1 |
---|---|
CFTR-RD | 1
|
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
6959 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 1139 | 117 |