CFTR-NGS variants catalogue
Variant hg19:chr7:117277729G/A
Name | NM_000492.4:c.3718-4763G>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117277729G>A UCSC gnomAD |
#Exon/intron | intron 22 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | GTGGATCACCTGAGGTCAGGAGTTC G AGACCAGCCTGGCCAACATGGTGAA |
Mutant sequence | GTGGATCACCTGAGGTCAGGAGTTC A AGACCAGCCTGGCCAACATGGTGAA |
MAF (GnomAD) | 1.40e-05 |
Splicing prediction (SpliceAI) | AG: 0.00 (-29) AL: 0.00 (-25) DG: 0.00 (-12) DL: 0.00 (20) |
Not found | Not found | dbSNP rs1249554294 | 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 |
---|---|---|---|---|---|---|---|
m6426 | CF | Montpellier | 230414_varilh | heterozygous | alleleBias | 320 | 0 |
m1552 | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 290 | 120 |