CFTR-NGS variants catalogue
Variant hg19:chr7:117147665C/G
Name | NM_000492.4:c.165-1423C>G |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117147665C>G UCSC gnomAD |
#Exon/intron | intron 2 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | AAATGTTATGGATGGGAGGTTAGCT C TGTGTGTGAGAGAAAGGTGGAGAAG |
Mutant sequence | AAATGTTATGGATGGGAGGTTAGCT G TGTGTGTGAGAGAAAGGTGGAGAAG |
MAF (GnomAD) | 1.31e-03 |
Splicing prediction (SpliceAI) | AG: 0.00 (13) AL: 0.00 (-16) DG: 0.00 (-32) DL: 0.00 (-8) |
Not found | Not found | dbSNP rs183726240 | 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 |
---|---|---|---|---|---|---|---|
5 | CFTR-RD | Montpellier | 150517_varilh | heterozygous | PASS | 3747 | 334 |
11 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 4120 | 320 |