CFTR-NGS variants catalogue
Variant hg19:chr7:117250151G/T
Name | NM_000492.4:c.2989-422G>T |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117250151G>T UCSC gnomAD |
#Exon/intron | intron 18 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | VUS |
Subclass | VUS3 |
WT sequence | TCATGTCCTTTGTAGGGACATGGAT G AAATTGGAAAACATCATTCTCAGTA |
Mutant sequence | TCATGTCCTTTGTAGGGACATGGAT T AAATTGGAAAACATCATTCTCAGTA |
MAF (GnomAD) | 1.70e-03 |
Splicing prediction (SpliceAI) | AG: 0.00 (27) AL: 0.00 (-10) DG: 0.00 (-15) DL: 0.00 (22) |
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 |