CFTR-NGS variants catalogue
Variant hg19:chr7:117301328G/A
Name | NM_000492.4:c.3964-3414G>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117301328G>A UCSC gnomAD |
#Exon/intron | intron 24 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TCACAGTGAATAAAACAGTGAGATA G GAATATTGCAAAATGTCCCCTGTGT |
Mutant sequence | TCACAGTGAATAAAACAGTGAGATA A GAATATTGCAAAATGTCCCCTGTGT |
MAF (GnomAD) | 7.05e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (-19) AL: 0.00 (1) DG: 0.00 (27) DL: 0.00 (37) |
Not found | Not found | dbSNP rs35986679 | 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 | 12 |
---|---|
Asymptomatic | 3 |
CF | 2 |
CFTR-RD | 1
|
Pending (NBS) | 2 |
Suspicion of CF | 4 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
MUCO07168 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 640 | 50 |
m9947 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 2744 | 199 |
T17 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | PASS | 2486 | 171 |
9078 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 2271 | 171 |
9777 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 2532 | 191 |
16MU00510 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 1705 | 139 |
1 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 3300 | 250 |
5543 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | PASS | 2297 | 169 |
8988 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 2137 | 150 |
7015 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 2301 | 184 |
m8852 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 1921 | 162 |
P6Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 1776 | 150 |