CFTR-NGS variants catalogue
Variant hg19:chr7:117134058C/T
Name | NM_000492.4:c.54-10249C>T |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117134058C>T UCSC gnomAD |
#Exon/intron | intron 1 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | AGACAGAAGAGAAAAATTCCAGAAT C GACTGATCATTTTTATCTGTTTAGA |
Mutant sequence | AGACAGAAGAGAAAAATTCCAGAAT T GACTGATCATTTTTATCTGTTTAGA |
MAF (GnomAD) | 4.19e-05 |
Splicing prediction (SpliceAI) | AG: 0.00 (25) AL: 0.00 (-40) DG: 0.00 (-41) DL: 0.00 (34) |
Not found | Not found | dbSNP rs982577351 | 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 |
---|---|---|---|---|---|---|---|
16MU00179 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 4477 | 384 |