CFTR-NGS variants catalogue
Variant hg19:chr7:117149177G/A
Name | NM_000492.4:c.254G>A |
Protein name | NP_000483.3:p.(Gly85Glu) |
Genomic name (hg19) | chr7:g.117149177G>A UCSC gnomAD |
#Exon/intron | exon 3 |
Legacy Name | G85E |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | TTTTTCTGGAGATTTATGTTCTATG G AATCTTTTTATATTTAGGGGTAAGG |
Mutant sequence | TTTTTCTGGAGATTTATGTTCTATG A AATCTTTTTATATTTAGGGGTAAGG |
MAF (GnomAD) | 5.59e-05 |
Splicing prediction (SpliceAI) | AG: 0.00 (18) AL: 0.00 (-14) DG: 0.00 (-9) DL: 0.12 (19) |
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 |
38 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 |
---|---|---|---|---|---|---|---|
P2B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 3586 | 301 |