CFTR-NGS variants catalogue
Variant hg19:chr7:117189267C/A
Name | NM_000492.4:c.1392+390C>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117189267C>A UCSC gnomAD |
#Exon/intron | intron 10 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CATTTTGCCTTAGTAACCACATAAA C AAAAGGTCTCCATTTTTGTTAACAT |
Mutant sequence | CATTTTGCCTTAGTAACCACATAAA A AAAAGGTCTCCATTTTTGTTAACAT |
MAF (GnomAD) | 1.45e-05 |
Splicing prediction (SpliceAI) | AG: 0.00 (5) AL: 0.00 (6) DG: 0.00 (-14) DL: 0.00 (5) |
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 |