CFTR-NGS variants catalogue
Name | NM_000492.4:c.2252G>T |
Protein name | NP_000483.3:p.(Arg751Leu) |
Genomic name (hg19) | chr7:g.117232473G>T UCSC gnomAD |
#Exon/intron | exon 14 |
Legacy Name | R751L |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | VUS |
WT sequence | GAGCAGGGAGAGGCGATACTGCCTC G CATCAGCGTGATCAGCACTGGCCCC |
Mutant sequence | GAGCAGGGAGAGGCGATACTGCCTC T CATCAGCGTGATCAGCACTGGCCCC |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
Not found | dbSNP no rs |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |