CFTR-NGS variants catalogue
Variant hg19:chr7:117265255T/C
Name | NM_000492.4:c.3469-2321T>C |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117265255T>C UCSC gnomAD |
#Exon/intron | intron 21 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | AGATTAAATCACACGTTCTTGGCTA T GCATATTTGGGCATGCTGTGGGGAG |
Mutant sequence | AGATTAAATCACACGTTCTTGGCTA C GCATATTTGGGCATGCTGTGGGGAG |
MAF (GnomAD) | 7.48e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (35) AL: 0.00 (-4) DG: 0.00 (17) DL: 0.00 (-47) |
Not found | Not found | dbSNP rs28472519 | 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 | 2 |
---|---|
CFTR-RD | 1
|
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
9 | CFTR-RD | Montpellier | 150517_varilh | homozygous | PASS | 10592 | 347 |
m4959 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 2651 | 268 |