CFTR-NGS variants catalogue
Variant hg19:chr7:117179040AGAAT/A
Name | NM_000492.4:c.870-1113_870-1110delGAAT |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117179041_117179044del UCSC |
#Exon/intron | intron 7 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CTCTTAGTTCTGCACTTGAGAATGA GAAT AGCTTTTCTGAATTATACAAGGAAG |
Mutant sequence | CTCTTAGTTCTGCACTTGAGAATGA ---- AGCTTTTCTGAATTATACAAGGAAG |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | AG: 0.29 (-48) AL: 0.00 (26) DG: 0.00 (47) DL: 0.00 (-48) |
Not found | Not found | dbSNP rs397508809 | 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 |
---|---|
Asymptomatic | 1 |
CFTR-RD | 1
|
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
MUCO07319 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 7025 | 307 |
3641 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 10601 | 595 |