CFTR-NGS variants catalogue
Variant hg19:chr7:117281232G/A
Name | NM_000492.4:c.3718-1260G>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117281232G>A UCSC gnomAD |
#Exon/intron | intron 22 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ATAGGGGGTCAACTGTGTCATTATT G CTTATCAGCTTATCCCAAAGACCTA |
Mutant sequence | ATAGGGGGTCAACTGTGTCATTATT A CTTATCAGCTTATCCCAAAGACCTA |
MAF (GnomAD) | 3.76e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (9) AL: 0.00 (-39) DG: 0.00 (-19) DL: 0.00 (25) |
Not found | Not found | dbSNP rs35553213 | 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 | 1 |
---|---|
CFTR-RD | 1
|
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
9 | CFTR-RD | Montpellier | 150517_varilh | heterozygous | PASS | 2212 | 310 |