CFTR-NGS variants catalogue
Variant hg19:chr7:117279531CTG/C
Name | NM_000492.4:c.3718-2960_3718-2959delTG |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117279532_117279533del UCSC |
#Exon/intron | intron 22 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | GGAGTCAGATTCTTCATGATAAATC TG GACTTAATCAAAATTCCTCATATGG |
Mutant sequence | GGAGTCAGATTCTTCATGATAAATC -- GACTTAATCAAAATTCCTCATATGG |
MAF (GnomAD) | 8.15e-03 |
Splicing prediction (SpliceAI) | AG: 0.00 (-16) AL: 0.00 (-22) DG: 0.00 (26) DL: 0.00 (23) |
Not found | Not found | dbSNP rs138046494 | 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 | 3 |
---|---|
Asymptomatic | 2 |
CFTR-RD | 1
|
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m4793 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 5158 | 335 |
m5062 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 3780 | 192 |
6175 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3165 | 177 |