CFTR-NGS variants catalogue
Name | NM_000492.4:c.3718-5379_3718-5376delTGCC |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117277113_117277116del UCSC |
#Exon/intron | intron 22 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CTTGAACTCCTAACCTCAAGTGATC TGCC CACCTTAGCCTCCCAAATTGCTGGG |
Mutant sequence | CTTGAACTCCTAACCTCAAGTGATC ---- CACCTTAGCCTCCCAAATTGCTGGG |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
Not found | Not found | dbSNP no rs | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
not verified | not performed |
No patient found in CFTR-NGS |
No patient found in CFTR-France |