CFTR-NGS variants catalogue
Variant hg19:chr7:117260128ATT/A,AT
Name | NM_000492.4:c.3468+5371_3468+5372delTT |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117260138_117260139del UCSC |
#Exon/intron | intron 21 |
Type in CFTR-NGS catalogue | repeat |
Class in CFTR-France | not reported |
WT sequence | GGAGTCATTTCTTCAATTTTTTTTT TT GGTCTCCTTTTAATGGTTTCTTGAT |
Mutant sequence | GGAGTCATTTCTTCAATTTTTTTTT -- GGTCTCCTTTTAATGGTTTCTTGAT |
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-France |
TOTAL NUMBER OF INDIVIDUALS | 2 |
---|---|
CF | 1 |
CFTR-RD | 1
|
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m6426 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 7702 | 403 |
P1Co | CFTR-RD | Montpellier | 230414_varilh | heterozygous | PASS | 4841 | 271 |