CFTR-NGS variants catalogue
Variant hg19:chr7:117304352G/A
Name | NM_000492.4:c.3964-390G>A |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117304352G>A UCSC gnomAD |
#Exon/intron | intron 24 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | AGATGTCATACTAGAGGGCATATCT G CAATGTATACATATTATCTTTTCCA |
Mutant sequence | AGATGTCATACTAGAGGGCATATCT A CAATGTATACATATTATCTTTTCCA |
MAF (GnomAD) | 2.70e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (27) AL: 0.00 (-23) DG: 0.00 (4) DL: 0.00 (-7) |
Not found | Not found | dbSNP rs214157 | 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 |
---|---|---|---|---|---|---|---|
cad200366 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 1367 | 135 |