CFTR-NGS variants catalogue
Variant hg19:chr7:117250479CAA/C,CA
Name | NM_000492.4:c.2989-82_2989-81delAA |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117250491_117250492del UCSC |
#Exon/intron | intron 18 |
Type in CFTR-NGS catalogue | repeat |
Class in CFTR-France | not reported |
WT sequence | TGTTTAAAGTATGCAAAAAAAAAAA AA GAAATAAATCACTGACACACTTTGT |
Mutant sequence | TGTTTAAAGTATGCAAAAAAAAAAA -- GAAATAAATCACTGACACACTTTGT |
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 | 1 |
---|---|
Asymptomatic | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
MUCO07319 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 7155 | 241 |