CFTR-NGS variants catalogue
Variant hg19:chr7:117246808G/A
Name | NM_000492.4:c.2988+1G>A |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117246808G>A UCSC gnomAD |
#Exon/intron | intron 18 |
Legacy Name | 3120+1G>A |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | TCTTACCATATTTGACTTCATCCAG G TATGTAAAAATAAGTACCGTTAAGT |
Mutant sequence | TCTTACCATATTTGACTTCATCCAG A TATGTAAAAATAAGTACCGTTAAGT |
MAF (GnomAD) | 2.94e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (18) AL: 0.00 (0) DG: 0.00 (18) DL: 0.99 (-1) |
dbSNP no rs | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |
41 individuals carrying this variant are reported in CFTR-France |
TOTAL NUMBER OF INDIVIDUALS | 1 |
---|---|
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
cad200366 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 612 | 174 |