CFTR-NGS variants catalogue
Variant hg19:chr7:117234920A/G
Name | NM_000492.4:c.2491-64A>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117234920A>G UCSC gnomAD |
#Exon/intron | intron 14 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TCTTTTATTTTCATATATTAAAAAT A AAACCACAATGGTGGCATGAAACTG |
Mutant sequence | TCTTTTATTTTCATATATTAAAAAT G AAACCACAATGGTGGCATGAAACTG |
MAF (GnomAD) | 2.16e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (45) AL: 0.00 (2) DG: 0.00 (37) DL: 0.00 (-36) |
Not found | Not found | dbSNP rs561571948 | 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 |
---|---|
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
cad200419 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 939 | 100 |