CFTR-NGS variants catalogue
Variant hg19:chr7:117139538C/A
Name | NM_000492.4:c.54-4769C>A |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117139538C>A UCSC gnomAD |
#Exon/intron | intron 1 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | GTGTTTAAAAAATCAAGTGATAGGG C TTTTCCTCAATAAAATCTGAAATCT |
Mutant sequence | GTGTTTAAAAAATCAAGTGATAGGG A TTTTCCTCAATAAAATCTGAAATCT |
MAF (GnomAD) | 6.27e-03 |
Splicing prediction (SpliceAI) | AG: 0.00 (33) AL: 0.00 (15) DG: 0.00 (31) DL: 0.00 (-10) |
Not found | Not found | dbSNP no rs | 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 | 368 | 46 |