CFTR-NGS variants catalogue
Variant hg19:chr7:117212751TC/T
Name | NM_000492.4:c.1584+13048delC |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117212757del UCSC |
#Exon/intron | intron 11 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CTGCTCCTACCACACTTATTCCCCC C TTGTCCATTTTCCTTGTGCATAAAG |
Mutant sequence | CTGCTCCTACCACACTTATTCCCCC - TTGTCCATTTTCCTTGTGCATAAAG |
MAF (GnomAD) | 5.59e-05 |
Splicing prediction (SpliceAI) | AG: 0.00 (-28) AL: 0.00 (32) DG: 0.00 (36) DL: 0.00 (43) |
Not found | Not found | dbSNP rs915524421 | 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 | 2 |
---|---|
CF | 1 |
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
17MU01239 | CF | Cochin | 150419_Altieri | heterozygous | PASS | 2346 | 192 |
10 | Suspicion of CF | Montpellier | 150517_varilh | heterozygous | PASS | 3360 | 220 |