CFTR-NGS variants catalogue
Variant hg19:chr7:117292080C/G
Name | NM_000492.4:c.3874-816C>G |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117292080C>G UCSC gnomAD |
#Exon/intron | intron 23 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CAAAAATATTATTTTCAATTCACCC C AGGCACAGAGAACTAAGTATTATTA |
Mutant sequence | CAAAAATATTATTTTCAATTCACCC G AGGCACAGAGAACTAAGTATTATTA |
MAF (GnomAD) | 5.63e-03 |
Splicing prediction (SpliceAI) | AG: 0.00 (9) AL: 0.00 (3) DG: 0.00 (9) DL: 0.00 (3) |
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 |
---|---|
Asymptomatic | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
MUCO07358 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 2871 | 206 |