catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117128052C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.53+7851C>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117128052C>T    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AACTATATAGGGGGCTCCCTTTGTA C GTTTTATTTATTTTAAACATCTCTA
Mutant sequence AACTATATAGGGGGCTCCCTTTGTA T GTTTTATTTATTTTAAACATCTCTA


Additional information:
MAF (GnomAD) 1.07e-02
Splicing prediction (SpliceAI) AG: 0.00 (-33)
AL: 0.00 (-4)
DG: 0.00 (-33)
DL: 0.00 (-4)




External sources:

Not found
Not found		dbSNP
rs34000781
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


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

TOTAL NUMBER OF INDIVIDUALS 9
Asymptomatic 4
CF 5



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m2761AsymptomaticMontpellier230414_varilhheterozygous PASS 5378 430
m93AsymptomaticMontpellier230414_varilhheterozygous PASS 2943 208
MUCO07658AsymptomaticMontpellier100714_varilhheterozygous PASS 1601 130
T2AsymptomaticMontpellier160218_varilhheterozygous PASS 1260 128
m2760CFMontpellier230414_varilhheterozygous PASS 4089 316
m6426CFMontpellier230414_varilhheterozygous PASS 5128 384
P1BCFMontpellier230414_varilhheterozygous PASS 6057 472
P2BCFMontpellier230414_varilhheterozygous PASS 5503 372
9886CFMontpellier160218_varilhheterozygous PASS 2706 216





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