CFTR-NGS variants catalogue
Variant hg19:chr7:117260888C/T
Name | NM_000492.4:c.3468+6121C>T |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117260888C>T UCSC gnomAD |
#Exon/intron | intron 21 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TATAAAAACACAGAGTAGCCAGGTG C GGTGGCTCATGCCTGTAATCCCAGC |
Mutant sequence | TATAAAAACACAGAGTAGCCAGGTG T GGTGGCTCATGCCTGTAATCCCAGC |
MAF (GnomAD) | 2.49e-03 |
Splicing prediction (SpliceAI) | AG: 0.00 (25) AL: 0.00 (-12) DG: 0.00 (45) DL: 0.00 (-4) |
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 | 1 |
---|---|
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
csg183926 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 2005 | 170 |