CFTR-NGS variants catalogue
Variant hg19:chr7:117122901C/T
Name | NM_000492.4:c.2989-1846_2989-1845insG |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117248727_117248728insG UCSC |
#Exon/intron | intron 18 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ACAGTACAAATTTGGTTAATTTTGA - TTTTGTTAAATAATTAATCACAGGG |
Mutant sequence | ACAGTACAAATTTGGTTAATTTTGA G TTTTGTTAAATAATTAATCACAGGG |
MAF (GnomAD) | 2.15e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (46) AL: 0.00 (-30) DG: 0.00 (46) DL: 0.00 (23) |
![]() Not found | ![]() Not found | dbSNP rs151305969 | ![]() Not found | ![]() |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
not verified | not performed |
No patient found in CFTR-France |
TOTAL NUMBER OF INDIVIDUALS | 1 |
---|---|
Asymptomatic | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m9947 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 2936 | 223 |