catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117139483CTG/C


CFTR-NGS Variant details:
Name NM_000492.4:c.54-4792_54-4791delGT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117139515_117139516del    UCSC    
#Exon/intron intron 1
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence TGTGTGTGTGTGTGTGTGTGTGTGT GT TTAAAAAATCAAGTGATAGGGCTTT
Mutant sequence TGTGTGTGTGTGTGTGTGTGTGTGT -- TTAAAAAATCAAGTGATAGGGCTTT


Additional information:
MAF (GnomAD) 7.87e-06
Splicing prediction (SpliceAI) AG: 0.00 (-24)
AL: 0.00 (-6)
DG: 0.00 (5)
DL: 0.00 (3)




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)
not verifiednot performed



No patient found in CFTR-France


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

TOTAL NUMBER OF INDIVIDUALS 11
Asymptomatic 3
CF 2
CFTR-RD2
  • CFTR-RD  2
Infertility 1
Suspicion of CF 3



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m93AsymptomaticMontpellier230414_varilhheterozygous PASS 2943 85
8989AsymptomaticMontpellier40216_varilhheterozygous PASS 139 38
vd62AsymptomaticMontpellier230414_varilhheterozygous PASS 378 129
18MU01177CFCochin150419_Altieriheterozygous LowVariantFreq 102 60
P2BCFMontpellier230414_varilhheterozygous PASS 946 188
5004CFTR-RDMontpellier40216_varilhheterozygous PASS 232 67
6008CFTR-RDMontpellier160218_varilhheterozygous PASS 305 68
m9437InfertilityMontpellier150419_Altieriheterozygous PASS 120 37
P7CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 804 296
m10080Suspicion of CFMontpellier150419_Altieriheterozygous LowQD 49 37
7015Suspicion of CFMontpellier40216_varilhheterozygous alleleBias 261 0





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