CFTR-NGS variants catalogue
Variant hg19:chr7:117252081A/G
Name | NM_000492.4:c.3367+219A>G |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117252081A>G UCSC gnomAD |
#Exon/intron | intron 20 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ATCGGATATATATATATATATGTAT A TATATATATATATATATATATATAT |
Mutant sequence | ATCGGATATATATATATATATGTAT G TATATATATATATATATATATATAT |
MAF (GnomAD) | 2.35e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (42) AL: 0.00 (34) DG: 0.00 (-5) DL: 0.00 (35) |
Not found | Not found | dbSNP rs868613877 | 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 | 4 |
---|---|
Asymptomatic | 2 |
CF | 2 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m2761 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 378 | 70 |
m93 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 531 | 39 |
m2760 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 214 | 64 |
P2B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 108 | 27 |