CFTR-NGS variants catalogue
Variant hg19:chr7:117121652A/G
Name | NM_000492.4:c.53+1451A>G |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117121652A>G UCSC gnomAD |
#Exon/intron | intron 1 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TCAGGCTGGTTTGCAAAGAAAATGT A TTACAAAGGCTGCTAAGTGTGTTAA |
Mutant sequence | TCAGGCTGGTTTGCAAAGAAAATGT G TTACAAAGGCTGCTAAGTGTGTTAA |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | AG: 0.00 (-21) AL: 0.00 (-39) DG: 0.00 (16) DL: 0.00 (-3) |
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 |
---|---|
Pending (NBS) | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
6150 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | PASS | 4700 | 449 |