CFTR-NGS variants catalogue
Variant hg19:chr7:117273390A/AT
Name | NM_000492.4:c.3717+5574dupT |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117273398dup UCSC |
#Exon/intron | intron 22 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | GTTATATAGGAAAATGATTTTTTTT - GCATGTTAGCCTTATATCTTTCAAC |
Mutant sequence | GTTATATAGGAAAATGATTTTTTTT T GCATGTTAGCCTTATATCTTTCAAC |
MAF (GnomAD) | 6.58e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (42) AL: 0.00 (-7) DG: 0.00 (12) DL: 0.00 (-30) |
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 | 1 |
---|---|
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
cad200419 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 173 | 22 |