CFTR-NGS variants catalogue
Variant hg19:chr7:117156666G/A
Name | NM_000492.4:c.273+7470G>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117156666G>A UCSC gnomAD |
#Exon/intron | intron 3 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TTATCAGTGAGGGTGGCGGTGGGGA G GGGACTTTGGAGTCTAACTGTCTAG |
Mutant sequence | TTATCAGTGAGGGTGGCGGTGGGGA A GGGACTTTGGAGTCTAACTGTCTAG |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | AG: 0.00 (-27) AL: 0.00 (-43) DG: 0.00 (30) DL: 0.00 (-45) |
Not found | Not found | dbSNP no rs | 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 |
---|---|---|---|---|---|---|---|
MUCO07381 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 2055 | 179 |