CFTR-NGS variants catalogue
Name | NM_000492.4:c.2547C>A |
Protein name | NP_000483.3:p.(Tyr849*) |
Genomic name (hg19) | chr7:g.117235040C>A UCSC gnomAD |
#Exon/intron | exon 15 |
Legacy Name | Y849X |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
WT sequence | CAGCAGTGACTACATGGAACACATA C CTTCGATATATTACTGTCCACAAGA |
Mutant sequence | CAGCAGTGACTACATGGAACACATA A CTTCGATATATTACTGTCCACAAGA |
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 |
No patient found in CFTR-NGS |
No patient found in CFTR-France |