CFTR-NGS variants catalogue
Variant hg19:chr7:117291509C/T
Name | NM_000492.4:c.3874-1387C>T |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117291509C>T UCSC gnomAD |
#Exon/intron | intron 23 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | GTTTTTCAGAATTCTCCAATAATGA C CTTTGTCTACTCTCTTCAGTTTATT |
Mutant sequence | GTTTTTCAGAATTCTCCAATAATGA T CTTTGTCTACTCTCTTCAGTTTATT |
MAF (GnomAD) | 5.71e-03 |
Splicing prediction (SpliceAI) | AG: 0.00 (50) AL: 0.00 (-24) DG: 0.00 (-2) DL: 0.00 (20) |
Not found | Not found | dbSNP rs117299152 | 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 | 5 |
---|---|
Asymptomatic | 1 |
Suspicion of CF | 4 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
9005 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | PASS | 2498 | 238 |
8892 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 1944 | 163 |
cad190405 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 251 | 84 |
cad190461 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 817 | 161 |
cad200365 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 471 | 109 |