CFTR-NGS variants catalogue
Variant hg19:chr7:117131919C/T
Name | NM_000492.4:c.53+11718C>T |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117131919C>T UCSC gnomAD |
#Exon/intron | intron 1 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | ATTCAACCTATAACAATTGATAACA C TCTTTAGGAGCAGAATGCGATATGG |
Mutant sequence | ATTCAACCTATAACAATTGATAACA T TCTTTAGGAGCAGAATGCGATATGG |
MAF (GnomAD) | 8.73e-04 |
Splicing prediction (SpliceAI) | AG: 0.00 (8) AL: 0.00 (-24) DG: 0.00 (45) DL: 0.00 (27) |
Not found | Not found | dbSNP rs149922616 | 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 |
---|---|
CF | 1 |
ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
---|---|---|---|---|---|---|---|
m2369 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 7626 | 570 |