catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117277729G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3718-4763G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117277729G>A    UCSC    gnomAD
#Exon/intron intron 22
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GTGGATCACCTGAGGTCAGGAGTTC G AGACCAGCCTGGCCAACATGGTGAA
Mutant sequence GTGGATCACCTGAGGTCAGGAGTTC A AGACCAGCCTGGCCAACATGGTGAA


Additional information:
MAF (GnomAD) 1.40e-05
Splicing prediction (SpliceAI) AG: 0.00 (-29)
AL: 0.00 (-25)
DG: 0.00 (-12)
DL: 0.00 (20)




External sources:

Not found

Not found
dbSNP
rs1249554294

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
m6426CFMontpellier230414_varilhheterozygous alleleBias 320 0
m1552Suspicion of CFMontpellier230414_varilhheterozygous PASS 290 120





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