CFTR-NGS variants catalogue
Variant hg19:chr7:117196566CTTTTTTTTTTTTTTTT/C,CTTTTTTTTTTTTTT
Name | NM_000492.4:c.1393-2942_1393-2927del16 |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117196576_117196591del UCSC |
#Exon/intron | intron 10 |
Type in CFTR-NGS catalogue | repeat |
Class in CFTR-France | not reported |
WT sequence | TTATTTGTTTCATTTCTTTTTTTTT TTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCC |
Mutant sequence | TTATTTGTTTCATTTCTTTTTTTTT ---------------- GAGACGGAGTCTCGCTCTGTCGCCC |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
![]() 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 |
---|---|---|---|---|---|---|---|
8293 | Suspicion of CF | Montpellier | 40216_varilh | homozygous | PASS | 3808 | 138 |