catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117184270G/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1209+2108G>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117184270G>T    UCSC    gnomAD
#Exon/intron intron 9
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GAACACTTACTTTATCAGTTTTGGA G AAGGAAGTGCTATCTGGGTAACAGT
Mutant sequence GAACACTTACTTTATCAGTTTTGGA T AAGGAAGTGCTATCTGGGTAACAGT


Additional information:
MAF (GnomAD) 1.43e-03
Splicing prediction (SpliceAI) AG: 0.00 (-26)
AL: 0.08 (-24)
DG: 0.00 (-2)
DL: 0.00 (17)




External sources:

Not found
Not found		dbSNP
rs528766380
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
Suspicion of CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m9196Suspicion of CFMontpellier150419_Altieriheterozygous LowVariantFreq 636 125
csg182478Suspicion of CFMontpellier151220_Altieriheterozygous PASS 23 25





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