CFTR-NGS variants catalogue
Variant hg19:chr7:117305945C/G
Name | NM_000492.4:c.4242+327C>G |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117305945C>G UCSC gnomAD |
#Exon/intron | intron 26 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CTGTTTAAGATTTTAAAAAAGGTCC C TGTGATTCTTTCAATAACTAAATGT |
Mutant sequence | CTGTTTAAGATTTTAAAAAAGGTCC G TGTGATTCTTTCAATAACTAAATGT |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | AG: 0.00 (-16) AL: 0.00 (49) DG: 0.00 (-5) DL: 0.00 (17) |
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 | 2 |
---|---|
Asymptomatic | 1 |
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
9005 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | PASS | 2485 | 257 |
8892 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 1808 | 173 |