CFTR-NGS variants catalogue
Variant hg19:chr7:117123359A/G
Name | NM_000492.4:c.53+3158A>G |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117123359A>G UCSC gnomAD |
#Exon/intron | intron 1 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | non disease-causing |
WT sequence | CTAAATAATACATAAATTTCTTCTC A TAAGTATATATTAGCCACATTATTT |
Mutant sequence | CTAAATAATACATAAATTTCTTCTC G TAAGTATATATTAGCCACATTATTT |
MAF (GnomAD) | 1.40e-05 |
Splicing prediction (SpliceAI) | AG: 0.00 (5) AL: 0.00 (29) DG: 0.00 (-1) DL: 0.00 (-11) |
Not found | Not found | dbSNP rs1264197967 | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | no effect |
4 individuals carrying this variant are reported in CFTR-France |
TOTAL NUMBER OF INDIVIDUALS | 3 |
---|---|
CF | 3 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m6426 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 1912 | 294 |
P1B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 2035 | 305 |
9886 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 1096 | 93 |