CFTR-NGS variants catalogue
Variant hg19:chr7:117186558G/A
Name | NM_000492.4:c.1210-2137G>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117186558G>A UCSC gnomAD |
#Exon/intron | intron 9 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ATGTAAATATAAATATAAATGTGTG G AGTGATATCCATTGAAATGTTAAAC |
Mutant sequence | ATGTAAATATAAATATAAATGTGTG A AGTGATATCCATTGAAATGTTAAAC |
MAF (GnomAD) | 2.24e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (30) AL: 0.00 (-5) DG: 0.00 (-47) DL: 0.00 (50) |
Not found | Not found | dbSNP rs577325324 | 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 |
---|---|
CF | 3 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m6426 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 925 | 76 |
P1B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 3964 | 288 |
9886 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 762 | 74 |