catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117232548C/G


CFTR-NGS Variant details:
Name NM_000492.4:c.2327C>G
Protein name NP_000483.3:p.(Ser776*)
Genomic name (hg19) chr7:g.117232548C>G    UCSC    gnomAD
#Exon/intron exon 14
Legacy Name S776X
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TCTGTCCTGAACCTGATGACACACT C AGTTAACCAAGGTCAGAACATTCAC
Mutant sequence TCTGTCCTGAACCTGATGACACACT G AGTTAACCAAGGTCAGAACATTCAC


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.02 (-40)
AL: 0.00 (3)
DG: 0.00 (1)
DL: 0.00 (11)




External sources:

Not found		dbSNP
no rs
Not found

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



1 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
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m1552Suspicion of CFMontpellier230414_varilhheterozygous PASS 2891 422





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