CFTR-NGS variants catalogue
Variant hg19:chr7:117208399A/G
Name | NM_000492.4:c.1584+8690A>G |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117208399A>G UCSC gnomAD |
#Exon/intron | intron 11 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ATGACCAGATTTGCATTTTACAAAG A TTGTCATTGACTGCAACATGAAGTA |
Mutant sequence | ATGACCAGATTTGCATTTTACAAAG G TTGTCATTGACTGCAACATGAAGTA |
MAF (GnomAD) | 5.17e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (0) AL: 0.00 (43) DG: 0.00 (-1) DL: 0.00 (43) |
Not found | Not found | dbSNP rs142017234 | 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 |
---|---|---|---|---|---|---|---|
m4793 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 3591 | 380 |