CFTR-NGS variants catalogue
Variant hg19:chr7:117180401G/A
Name | NM_000492.4:c.1116+1G>A |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117180401G>A UCSC gnomAD |
#Exon/intron | intron 8 |
Legacy Name | 1248+1G>A |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | TCTTGGAGCAATAAACAAAATACAG G TAATGTACCATAATGCTGCATTATA |
Mutant sequence | TCTTGGAGCAATAAACAAAATACAG A TAATGTACCATAATGCTGCATTATA |
MAF (GnomAD) | 6.98e-06 |
Splicing prediction (SpliceAI) | AG: 0.00 (-46) AL: 0.00 (-17) DG: 0.69 (-35) DL: 0.89 (-1) |
dbSNP no rs | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |
6 individuals carrying this variant are reported in CFTR-France |
TOTAL NUMBER OF INDIVIDUALS | 1 |
---|---|
CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
P1B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 3557 | 323 |