CFTR-NGS variants catalogue
Name | NM_000492.4:c.1358T>C |
Protein name | NP_000483.3:p.(Leu453Ser) |
Genomic name (hg19) | chr7:g.117188843T>C UCSC gnomAD |
#Exon/intron | exon 10 |
Legacy Name | L453S |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
WT sequence | AATTTCAAGATAGAAAGAGGACAGT T GTTGGCGGTTGCTGGATCCACTGGA |
Mutant sequence | AATTTCAAGATAGAAAGAGGACAGT C GTTGGCGGTTGCTGGATCCACTGGA |
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 |