CFTR-NGS variants catalogue
Variant hg19:chr7:117258309G/A
Name | NM_000492.4:c.3468+3542G>A |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117258309G>A UCSC gnomAD |
#Exon/intron | intron 21 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ATATCTTGATGAATCTTGGAAGGCC G AGGCAGGCGAATTACTTGAGGTCGG |
Mutant sequence | ATATCTTGATGAATCTTGGAAGGCC A AGGCAGGCGAATTACTTGAGGTCGG |
MAF (GnomAD) | 1.14e-02 |
Splicing prediction (SpliceAI) | AG: 0.00 (3) AL: 0.01 (-30) DG: 0.00 (2) DL: 0.00 (20) |
Not found | Not found | dbSNP rs77941195 | 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 |
---|---|
Suspicion of CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
P7Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 6940 | 472 |