CFTR-NGS variants catalogue
Variant hg19:chr7:117239688C/A
Name | NM_000492.4:c.2620-3192C>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117239688C>A UCSC gnomAD |
#Exon/intron | intron 15 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ATAGTTTTGGCCAGTATCCTCTAGA C CTTGCCAGTTAACTGGCTCTCAAAA |
Mutant sequence | ATAGTTTTGGCCAGTATCCTCTAGA A CTTGCCAGTTAACTGGCTCTCAAAA |
MAF (GnomAD) | 5.17e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (22) AL: 0.00 (-1) DG: 0.00 (-40) DL: 0.00 (45) |
Not found | Not found | dbSNP rs781482891 | 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 |
---|---|
CFTR-RD | 1
|
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
17MU00956 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 1134 | 204 |