catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117201363CT/C


CFTR-NGS Variant details:
Name NM_000492.4:c.1584+1664delT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117201373del    UCSC    
#Exon/intron intron 11
Type in CFTR-NGS catalogue repeat
Class in CFTR-France not reported
WT sequence GAAGAGGAAGAACATCTTTTTTTTT T CTGATTGCACGGGCAGCCTTAAAAT
Mutant sequence GAAGAGGAAGAACATCTTTTTTTTT - CTGATTGCACGGGCAGCCTTAAAAT


Additional information:
MAF (GnomAD) 1.88e-01
Splicing prediction (SpliceAI) AG: 0.00 (-17)
AL: 0.00 (-41)
DG: 0.00 (47)
DL: 0.00 (45)




External sources:

Not found

Not found
dbSNP
no rs

Not found

Variant validation:
Sanger
(present/not present/not verified)
Minigene
(effect/no effect/not performed)
not verifiednot performed



No patient found in CFTR-France


16 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 16
Asymptomatic 6
CF 1
CFTR-RD5
  • CFTR-RD  5
Pending (NBS) 1
Suspicion of CF 3



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m5062AsymptomaticMontpellier230414_varilhheterozygous PASS 3265 336
8989AsymptomaticMontpellier40216_varilhheterozygous PASS 3474 371
9005AsymptomaticMontpellier40216_varilhheterozygous PASS 2583 355
MUCO07407AsymptomaticMontpellier100714_varilhheterozygous PASS 1548 166
MUCO07319AsymptomaticMontpellier100714_varilhhomozygous PASS 7422 334
MUCO07168AsymptomaticMontpellier100714_varilhheterozygous PASS 1543 211
P1BCFMontpellier230414_varilhheterozygous PASS 6874 632
5914CFTR-RDMontpellier40216_varilhheterozygous PASS 3324 439
4709CFTR-RDMontpellier40216_varilhheterozygous PASS 3987 525
P1CoCFTR-RDMontpellier230414_varilhhomozygous PASS 22494 993
3199CFTR-RDMontpellier40216_varilhheterozygous PASS 4858 542
3641CFTR-RDMontpellier40216_varilhheterozygous PASS 5332 552
6150Pending (NBS)Montpellier40216_varilhheterozygous PASS 3880 529
7648Suspicion of CFMontpellier40216_varilhheterozygous PASS 3476 324
8892Suspicion of CFMontpellier40216_varilhheterozygous PASS 1891 237
P5CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 5444 534





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