CFTR-NGS variants catalogue
Name | NM_000492.4:c.274-2A>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117170951A>G UCSC gnomAD |
#Exon/intron | intron 3 |
Legacy Name | 406- 2A- >G |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | AATTTCTCTGTTTTTCCCCTTTTGT A GGAAGTCACCAAAGCAGTACAGCCT |
Mutant sequence | AATTTCTCTGTTTTTCCCCTTTTGT G GGAAGTCACCAAAGCAGTACAGCCT |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
dbSNP no rs | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |