CFTR-NGS variants catalogue
Name | NM_000492.4:c.1616T>C |
Protein name | NP_000483.3:p.(Ile539Thr) |
Genomic name (hg19) | chr7:g.117227824T>C UCSC gnomAD |
#Exon/intron | exon 12 |
Legacy Name | I539T |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | VUS |
Subclass | VUS3 |
WT sequence | TCCAAGTTTGCAGAGAAAGACAATA T AGTTCTTGGAGAAGGTGGAATCACA |
Mutant sequence | TCCAAGTTTGCAGAGAAAGACAATA C AGTTCTTGGAGAAGGTGGAATCACA |
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 |