catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117146168G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.164+1751G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117146168G>A    UCSC    gnomAD
#Exon/intron intron 2
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TTGTTGAATGAATCCATGATGGAAT G TGAAATGGCTAGCATTACATAGAAA
Mutant sequence TTGTTGAATGAATCCATGATGGAAT A TGAAATGGCTAGCATTACATAGAAA


Additional information:
MAF (GnomAD) 5.93e-03
Splicing prediction (SpliceAI) AG: 0.00 (-27)
AL: 0.00 (-45)
DG: 0.00 (-3)
DL: 0.00 (-45)




External sources:

Not found
Not found		dbSNP
rs117327320
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


5 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 5
Asymptomatic 1
Suspicion of CF 4



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9005AsymptomaticMontpellier40216_varilhheterozygous PASS 935 95
8892Suspicion of CFMontpellier40216_varilhheterozygous PASS 1232 107
cad190405Suspicion of CFMontpellier151220_Altieriheterozygous PASS 836 85
cad190461Suspicion of CFMontpellier151220_Altieriheterozygous PASS 2225 141
cad200365Suspicion of CFMontpellier151220_Altieriheterozygous PASS 976 81





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