CFTR-NGS variants catalogue
Variant hg19:chr7:117188660ATGTG/A
Name | NM_000492.4:c.1210-15_1210-12delGTGT |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117188680_117188683del UCSC |
#Exon/intron | intron 9 |
Legacy Name | TG9T7 |
Type in CFTR-NGS catalogue | TG-T |
Class in CFTR-France | non disease-causing |
WT sequence | TTTTGATGTGTGTGTGTGTGTGTGT GTGT TTTTTTAACAGGGATTTGGGGAATT |
Mutant sequence | TTTTGATGTGTGTGTGTGTGTGTGT ---- TTTTTTAACAGGGATTTGGGGAATT |
MAF (GnomAD) | 1.48e-05 |
Splicing prediction (SpliceAI) | AG: 0.02 (35) AL: 0.00 (3) DG: 0.00 (5) DL: 0.00 (13) |
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 |
---|---|---|---|---|---|---|---|
P1Co | CFTR-RD | Montpellier | 230414_varilh | heterozygous | PASS | 10864 | 494 |