catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117212751TC/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1584+13048delC
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117212757del    UCSC    
#Exon/intron intron 11
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CTGCTCCTACCACACTTATTCCCCC C TTGTCCATTTTCCTTGTGCATAAAG
Mutant sequence CTGCTCCTACCACACTTATTCCCCC - TTGTCCATTTTCCTTGTGCATAAAG


Additional information:
MAF (GnomAD) 5.59e-05
Splicing prediction (SpliceAI) AG: 0.00 (-28)
AL: 0.00 (32)
DG: 0.00 (36)
DL: 0.00 (43)




External sources:

Not found

Not found
dbSNP
rs915524421

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
CF 1
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
17MU01239CFCochin150419_Altieriheterozygous PASS 2346 192
10Suspicion of CFMontpellier150517_varilhheterozygous PASS 3360 220





Go to CFTRare
VLMCHUUM