CFTR-NGS variants catalogue
Variant hg19:chr7:117260530C/T
Name | NM_000492.4:c.3468+5763C>T |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117260530C>T UCSC gnomAD |
#Exon/intron | intron 21 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ATAGGAATCACATTTCTGCTACTGT C CCTGAATGCTAGAGTCCATTGATTA |
Mutant sequence | ATAGGAATCACATTTCTGCTACTGT T CCTGAATGCTAGAGTCCATTGATTA |
MAF (GnomAD) | 3.46e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (-21) AL: 0.00 (36) DG: 0.00 (8) DL: 0.00 (0) |
Not found | Not found | dbSNP rs113990647 | 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 | 4 |
---|---|
Asymptomatic | 2 |
CFTR-RD | 1
|
Pending (NBS) | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m2762 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 8816 | 330 |
9004 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | PASS | 3854 | 429 |
5914 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3427 | 324 |
5847 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | PASS | 3289 | 330 |