CFTR-NGS variants catalogue
Variant hg19:chr7:117201028G/A
Name | NM_000492.4:c.1584+1319G>A | ||||
Protein name | NP_000483.3:p.(?) | ||||
Genomic name (hg19) | chr7:g.117201028G>A UCSC gnomAD | ||||
#Exon/intron | intron 11 | ||||
Type in CFTR-NGS catalogue | - | ||||
Class in CFTR-France | not reported | ||||
Patients reported in CFTR-NGS, carrying this variant also carry: WT sequence |
GGTGCCTTACAGACTTTTTTTTTGC G TTAAGTATGTGTTTTCCCATAGGAA |
Mutant sequence |
GGTGCCTTACAGACTTTTTTTTTGC A TTAAGTATGTGTTTTCCCATAGGAA |
|
MAF (GnomAD) | 3.43e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (23) AL: 0.00 (-1) DG: 0.00 (-25) DL: 0.00 (-1) |
Not found | Not found | dbSNP rs758543641 | 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 | 2 |
---|---|
CFTR-RD | 1
|
Pending (NBS) | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
cad190200 | CFTR-RD | Montpellier | 150419_Altieri | heterozygous | PASS | 2945 | 311 |
cad190202 | Pending (NBS) | Montpellier | 150419_Altieri | heterozygous | PASS | 1400 | 155 |