CFTR-NGS variants catalogue
Variant hg19:chr7:117202817A/G
Name | NM_000492.4:c.1584+3108A>G |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117202817A>G UCSC gnomAD |
#Exon/intron | intron 11 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TACCCTTAGGGCACTACAGAAGCCT A GCTGATGGCTTTTAGCCTGGCTAGA |
Mutant sequence | TACCCTTAGGGCACTACAGAAGCCT G GCTGATGGCTTTTAGCCTGGCTAGA |
MAF (GnomAD) | 1.38e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (46) AL: 0.00 (34) DG: 0.00 (48) DL: 0.00 (-41) |
Not found | Not found | dbSNP rs116900477 | 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 | 1 |
CF | 1 |
CFTR-RD | 1
|
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m9947 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 3635 | 336 |
9078 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 2742 | 259 |
16MU00510 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 2819 | 273 |