CFTR-NGS variants catalogue
Variant hg19:chr7:117248896T/C
Name | NM_000492.4:c.2989-1677T>C |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117248896T>C UCSC gnomAD |
#Exon/intron | intron 18 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | AAATAAAGCATACCTATAAATTTTC T TTTTTTAAAAAAAAGTCTCTGTTCA |
Mutant sequence | AAATAAAGCATACCTATAAATTTTC C TTTTTTAAAAAAAAGTCTCTGTTCA |
MAF (GnomAD) | 2.44e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (-43) AL: 0.00 (16) DG: 0.00 (14) DL: 0.00 (4) |
Not found | Not found | dbSNP rs774913731 | 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 |
---|---|
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
cad190204 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 1643 | 132 |