catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117290177T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.3874-2719T>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117290177T>C    UCSC    gnomAD
#Exon/intron intron 23
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GGCCATCTTAAAGGCCTGAGTGTAG T GGAAAACCTTTGAAGGTTTGTTAAA
Mutant sequence GGCCATCTTAAAGGCCTGAGTGTAG C GGAAAACCTTTGAAGGTTTGTTAAA


Additional information:
MAF (GnomAD) 4.52e-03
Splicing prediction (SpliceAI) AG: 0.00 (0)
AL: 0.00 (33)
DG: 0.00 (15)
DL: 0.00 (-39)




External sources:

Not found
Not found		dbSNP
rs79791951
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


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
P7CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 5105 623





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