catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117179040AGAAT/A


CFTR-NGS Variant details:
Name NM_000492.4:c.870-1113_870-1110delGAAT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117179041_117179044del    UCSC    
#Exon/intron intron 7
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CTCTTAGTTCTGCACTTGAGAATGA GAAT AGCTTTTCTGAATTATACAAGGAAG
Mutant sequence CTCTTAGTTCTGCACTTGAGAATGA ---- AGCTTTTCTGAATTATACAAGGAAG


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.29 (-48)
AL: 0.00 (26)
DG: 0.00 (47)
DL: 0.00 (-48)




External sources:

Not found

Not found
dbSNP
rs397508809

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


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

TOTAL NUMBER OF INDIVIDUALS 2
Asymptomatic 1
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07319AsymptomaticMontpellier100714_varilhheterozygous PASS 7025 307
3641CFTR-RDMontpellier40216_varilhheterozygous PASS 10601 595





Go to CFTRare
VLMCHUUM