catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117266272C/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3469-1304C>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117266272C>G    UCSC    gnomAD
#Exon/intron intron 21
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence AAAACAGGCAATACAGTTAGAATTG C TAAGATGGAATTTTAACGTTCAATT
Mutant sequence AAAACAGGCAATACAGTTAGAATTG G TAAGATGGAATTTTAACGTTCAATT


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (-1)
AL: 0.00 (12)
DG: 0.98 (-1)
DL: 0.02 (-11)




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)
present effect



2 individuals carrying this variant are reported in CFTR-France


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

TOTAL NUMBER OF INDIVIDUALS 1
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
P2BCFMontpellier230414_varilhheterozygous PASS 2394 188





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