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CFTR-NGS variants catalogue
Variant hg19:chr7:117126950G/GGA,GGAGA
| Name | NM_000492.4:c.53+6770_53+6771dupGA |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117126971_117126972dup UCSC |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | microsatellite |
| Class in CFTR-France | not reported |
| WT sequence | GGGGAGAGAGAGAGAGAGAGAGAGA -- TTTGAAAGACATTTAGGAGGTAAAA |
| Mutant sequence | GGGGAGAGAGAGAGAGAGAGAGAGA GA TTTGAAAGACATTTAGGAGGTAAAA |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | - |
 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 | 6 |
|---|---|
| Asymptomatic | 1 |
| CF | 1 |
| CFTR-RD | 1
|
| Pending (NBS) | 1 |
| Suspicion of CF | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| T8 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | LowVariantFreq | 5036 | 154 |
| 9879 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 7777 | 252 |
| m8107 | CFTR-RD | Montpellier | 150419_Altieri | heterozygous | LowVariantFreq | 3752 | 117 |
| 26 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | LowVariantFreq | 8956 | 289 |
| P5Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 550 | 41 |
| 50070 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 7834 | 254 |
