CFTR-NGS variants catalogue
Variant hg19:chr7:117140127A/G
Name | NM_000492.4:c.54-4180A>G |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117140127A>G UCSC gnomAD |
#Exon/intron | intron 1 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ATGATCACTGATTTCTAGTGGAAGA A ATGCTGAAAAGTCCTTACTGTGCAT |
Mutant sequence | ATGATCACTGATTTCTAGTGGAAGA G ATGCTGAAAAGTCCTTACTGTGCAT |
MAF (GnomAD) | 9.69e-03 |
Splicing prediction (SpliceAI) | AG: 0.00 (-7) AL: 0.00 (-29) DG: 0.00 (38) DL: 0.00 (10) |
Not found | Not found | dbSNP rs145686078 | 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 |
---|---|
Pending (NBS) | 2 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
3190 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | PASS | 3044 | 323 |
13 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 3413 | 325 |