CFTR-NGS variants catalogue
Variant hg19:chr7:117301574G/T
Name | NM_000492.4:c.3964-3168G>T |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117301574G>T UCSC gnomAD |
#Exon/intron | intron 24 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TATGACTGGTGTGAATCTAGAGGGA G CATACTGCATTCTGACCAAAATCTC |
Mutant sequence | TATGACTGGTGTGAATCTAGAGGGA T CATACTGCATTCTGACCAAAATCTC |
MAF (GnomAD) | 1.42e-03 |
Splicing prediction (SpliceAI) | AG: 0.00 (37) AL: 0.00 (-5) DG: 0.00 (-18) DL: 0.00 (-5) |
Not found | Not found | dbSNP rs142105307 | 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 |
---|---|
Suspicion of CF | 3 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m9196 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 5026 | 419 |
csg182477 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 5975 | 568 |
csg182478 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 6705 | 589 |