CFTR-NGS variants catalogue
Name | NM_000492.4:c.[3469-331_3469-295del;3469-189_3717+3822del] |
Protein name | NP_000483.3:p.? |
Genomic name (hg19) | chr7:g.[117267245_117267281del; 117267387_117271646del] UCSC |
#Exon/intron | intron 21 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | CATTTTATTATAATATACCGGTTAT ACAGCA [25bp] ATAAAT TTTCTCTTTGATGTCATCTATTCCC ; CAGAGCCCATTTATATAAGTCCTGG TTATTT [4248bp] AACTGG AACTTTTTGGAGAGCCTCCAGGCTG |
Mutant sequence | CATTTTATTATAATATACCGGTTAT -------------------- TTTCTCTTTGATGTCATCTATTCCC ; CAGAGCCCATTTATATAAGTCCTGG ---------------------- AACTTTTTGGAGAGCCTCCAGGCTG |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
![]() | ![]() Not found | dbSNP no rs | ![]() Not found | ![]() Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |