CFTR-NGS variants catalogue
Variant hg19:chr7:117283504A/T
Name | NM_000492.4:c.3873+857A>T |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117283504A>T UCSC gnomAD |
#Exon/intron | intron 23 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CCAGGTAGACTGACTATAAATCTAG A CTGAAAAAAAAGCTTGTATTTCTTA |
Mutant sequence | CCAGGTAGACTGACTATAAATCTAG T CTGAAAAAAAAGCTTGTATTTCTTA |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | AG: 0.00 (-22) AL: 0.00 (30) DG: 0.00 (-22) DL: 0.00 (30) |
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 |
---|---|
CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m2369 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 5278 | 355 |