CFTR-NGS variants catalogue
Variant hg19:chr7:117185852A/AT
Name | NM_000492.4:c.1210-2832dupT |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117185863dup UCSC |
#Exon/intron | intron 9 |
Type in CFTR-NGS catalogue | repeat |
Class in CFTR-France | not reported |
WT sequence | CATATCATCACTTATTTTTTTTTTT - AATCACATATATGATTTTTTTTTCT |
Mutant sequence | CATATCATCACTTATTTTTTTTTTT T AATCACATATATGATTTTTTTTTCT |
MAF (GnomAD) | 4.01e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (42) AL: 0.00 (44) DG: 0.00 (17) DL: 0.00 (15) |
![]() 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 |
---|---|
CFTR-RD | 1
|
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
9 | CFTR-RD | Montpellier | 150517_varilh | heterozygous | PASS | 4630 | 678 |