CFTR-NGS variants catalogue
Variant hg19:chr7:117148900G/A
Name | NM_000492.4:c.165-188G>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117148900G>A UCSC gnomAD |
#Exon/intron | intron 2 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TCCCTGCACAGTGATATATGGCAGA G CATTGAATTCTGCCAAATATCTGGC |
Mutant sequence | TCCCTGCACAGTGATATATGGCAGA A CATTGAATTCTGCCAAATATCTGGC |
MAF (GnomAD) | 1.03e-03 |
Splicing prediction (SpliceAI) | AG: 0.00 (-14) AL: 0.00 (-1) DG: 0.00 (40) DL: 0.00 (23) |
Not found | Not found | dbSNP rs56045614 | 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 |
---|---|
CFTR-RD | 1
|
Pending (NBS) | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m8107 | CFTR-RD | Montpellier | 150419_Altieri | heterozygous | PASS | 2569 | 324 |
26 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 2427 | 195 |