CFTR-NGS variants catalogue
Variant hg19:chr7:117257871CAAAATATTTGAG/C
Name | NM_000492.4:c.3468+3108_3468+3119del12 |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117257875_117257886del UCSC |
#Exon/intron | intron 21 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ATTTCTTTGACCTACATATAGCAAA ATATTTGAGAAA GGACCACTTTCCATCTTTTCCTCAA |
Mutant sequence | ATTTCTTTGACCTACATATAGCAAA ------------ GGACCACTTTCCATCTTTTCCTCAA |
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 | 1 |
---|---|
CFTR-RD | 1
|
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
6959 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | alleleBias | 71 | 0 |