CFTR-NGS variants catalogue
Variant hg19:chr7:117199648T/G
Name | NM_000492.4:c.1523T>G |
Protein name | NP_000483.3:p.(Phe508Cys) |
Genomic name (hg19) | chr7:g.117199648T>G UCSC gnomAD |
#Exon/intron | exon 11 |
Legacy Name | F508C |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CFTR-RD-causing |
WT sequence | GGCACCATTAAAGAAAATATCATCT T TGGTGTTTCCTATGATGAATATAGA |
Mutant sequence | GGCACCATTAAAGAAAATATCATCT G TGGTGTTTCCTATGATGAATATAGA |
MAF (GnomAD) | 8.79e-04 |
Splicing prediction (SpliceAI) | AG: 0.03 (-43) AL: 0.01 (25) DG: 0.00 (-44) DL: 0.00 (-43) |
dbSNP no rs |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
44 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 |
---|---|---|---|---|---|---|---|
m2369 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 5903 | 497 |