CFTR-NGS variants catalogue
Variant hg19:chr7:117163207GA/G
Name | NM_000492.4:c.3963+1556delT |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117294541del UCSC |
#Exon/intron | intron 24 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CCAAATCTTGTCTTGAATTATAATT T CCATAATCTCCATGTGTTGAGGGAG |
Mutant sequence | CCAAATCTTGTCTTGAATTATAATT - CCATAATCTCCATGTGTTGAGGGAG |
MAF (GnomAD) | 2.06e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (-25) AL: 0.00 (39) DG: 0.00 (19) DL: 0.00 (1) |
Not found | Not found | dbSNP rs201153822 | 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 | 3936 | 311 |