CFTR-NGS variants catalogue
Variant hg19:chr7:117133666C/T
Name | NM_000492.4:c.54-10641C>T |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117133666C>T UCSC gnomAD |
#Exon/intron | intron 1 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | TAAAGCTTGAAGAAAATGAAAGTAG C GTTAGTATTGGTCCTCAAACTCAAG |
Mutant sequence | TAAAGCTTGAAGAAAATGAAAGTAG T GTTAGTATTGGTCCTCAAACTCAAG |
MAF (GnomAD) | 1.40e-05 |
Splicing prediction (SpliceAI) | AG: 0.00 (-2) AL: 0.00 (-31) DG: 0.00 (-33) DL: 0.00 (0) |
Not found | Not found | dbSNP rs778909328 | 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 | 2 |
---|---|
Asymptomatic | 2 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m4793 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 4866 | 406 |
m5062 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 5329 | 416 |