CFTR-NGS variants catalogue
Variant hg19:chr7:117277106A/G
Name | NM_000492.4:c.3718-5386A>G |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117277106A>G UCSC gnomAD |
#Exon/intron | intron 22 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | GGCGGGTCTTGAACTCCTAACCTCA A GTGATCTGCCCACCTTAGCCTCCCA |
Mutant sequence | GGCGGGTCTTGAACTCCTAACCTCA G GTGATCTGCCCACCTTAGCCTCCCA |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | AG: 0.00 (19) AL: 0.00 (-50) DG: 0.00 (0) DL: 0.00 (42) |
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 | 3 |
---|---|
Asymptomatic | 1 |
CF | 1 |
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m4793 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | LowQD | 150 | 148 |
m6426 | CF | Montpellier | 230414_varilh | heterozygous | alleleBias | 768 | 0 |
m1552 | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | alleleBias | 412 | 0 |