CFTR-NGS variants catalogue
Name | NM_000492.4:c.3681A>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117267788A>G UCSC gnomAD |
#Exon/intron | exon 22 |
Legacy Name | L1227L (3813A/G) |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | VUS |
Subclass | VUS3 |
WT sequence | ACACAGAAGGTGGAAATGCCATATT A GAGAACATTTCCTTCTCAATAAGTC |
Mutant sequence | ACACAGAAGGTGGAAATGCCATATT G GAGAACATTTCCTTCTCAATAAGTC |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
Not found | dbSNP no rs | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |