CFTR-NGS variants catalogue
Name | NM_000492.4:c.154A>T |
Protein name | NP_000483.3:p.(Lys52Ter) |
Genomic name (hg19) | chr7:g.117144407A>T UCSC gnomAD |
#Exon/intron | exon 2 |
Legacy Name | K52X |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | TGATTCTGCTGACAATCTATCTGAA A AATTGGAAAGGTATGTTCATGTACA |
Mutant sequence | TGATTCTGCTGACAATCTATCTGAA T AATTGGAAAGGTATGTTCATGTACA |
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 |
No patient found in CFTR-NGS |
No patient found in CFTR-France |