CFTR-NGS variants catalogue
Variant hg19:chr7:117170393G/C
Name | NM_000492.4:c.274-560G>C |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117170393G>C UCSC gnomAD |
#Exon/intron | intron 3 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CCCATTCCCAGCTCTGCTTTGTGTA G TTGCCTTGAGAAGCTAAGTTCATTC |
Mutant sequence | CCCATTCCCAGCTCTGCTTTGTGTA C TTGCCTTGAGAAGCTAAGTTCATTC |
MAF (GnomAD) | 1.40e-05 |
Splicing prediction (SpliceAI) | AG: 0.00 (-14) AL: 0.00 (1) DG: 0.00 (-40) DL: 0.00 (1) |
Not found | Not found | dbSNP rs1247813405 | 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 |
---|---|
Pending (NBS) | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
6 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 3265 | 335 |