CFTR-NGS variants catalogue
Variant hg19:chr7:117303392T/A
Name | NM_000492.4:c.3964-1350T>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117303392T>A UCSC gnomAD |
#Exon/intron | intron 24 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | AGTCTTCGGGGATACATCAGAGTAG T CCCCCTTGTCTAATAAATGTGTTTA |
Mutant sequence | AGTCTTCGGGGATACATCAGAGTAG A CCCCCTTGTCTAATAAATGTGTTTA |
MAF (GnomAD) | 3.42e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (44) AL: 0.00 (39) DG: 0.00 (44) DL: 0.00 (-5) |
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 |
---|---|
CF | 2 |
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
21 | CF | Montpellier | 150517_varilh | heterozygous | PASS | 4567 | 393 |
22 | CF | Montpellier | 150517_varilh | heterozygous | PASS | 4469 | 413 |
csg183926 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 1542 | 160 |