CFTR-NGS variants catalogue
Variant hg19:chr7:117244224TTCTA/T
Name | NM_000492.4:c.2908+390_2908+393delCTAT |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117244226_117244229del UCSC |
#Exon/intron | intron 17 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | AGTGATCAAGGAAAATATATTTTTT CTAT TGATTAAGTCTTTTGATGGGGTAGA |
Mutant sequence | AGTGATCAAGGAAAATATATTTTTT ---- TGATTAAGTCTTTTGATGGGGTAGA |
MAF (GnomAD) | 4.98e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (-7) AL: 0.00 (14) DG: 0.00 (25) DL: 0.00 (45) |
Not found | Not found | dbSNP rs10604610 | 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 |
---|---|---|---|---|---|---|---|
MUCO07358 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 2331 | 73 |
cad200291 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 6157 | 235 |