CFTR-NGS variants catalogue
Variant hg19:chr7:117295084G/C
Name | NM_000492.4:c.3963+2099G>C |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117295084G>C UCSC gnomAD |
#Exon/intron | intron 24 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TGGCTGACTAATATCCCCACTGTCT G AATGCATAGCACCTAGTTTCTGTTG |
Mutant sequence | TGGCTGACTAATATCCCCACTGTCT C AATGCATAGCACCTAGTTTCTGTTG |
MAF (GnomAD) | 1.17e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (10) AL: 0.00 (-26) DG: 0.00 (-33) DL: 0.00 (-27) |
Not found | Not found | dbSNP rs118156631 | 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 | 6 |
---|---|
Asymptomatic | 2 |
CF | 1 |
CFTR-RD | 3
|
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m4793 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 1303 | 114 |
MUCO07318 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 483 | 54 |
9777 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 3380 | 299 |
3641 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3173 | 316 |
6959 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 2379 | 201 |
m8107 | CFTR-RD | Montpellier | 150419_Altieri | heterozygous | PASS | 3478 | 362 |