catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117189206A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.1392+329A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117189206A>G    UCSC    gnomAD
#Exon/intron intron 10
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TTATCCATTCTTAACCAGAACAGAC A TTTTTTCAGAGCTGGTCCAGGAAAA
Mutant sequence TTATCCATTCTTAACCAGAACAGAC G TTTTTTCAGAGCTGGTCCAGGAAAA


Additional information:
MAF (GnomAD) 6.10e-03
Splicing prediction (SpliceAI) AG: 0.00 (-7)
AL: 0.00 (2)
DG: 0.00 (47)
DL: 0.00 (-42)




External sources:

Not found

Not found
dbSNP
rs60363249

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


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

TOTAL NUMBER OF INDIVIDUALS 3
Asymptomatic 2
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9878AsymptomaticMontpellier160218_varilhheterozygous LowVariantFreq 1267 939
9881AsymptomaticMontpellier160218_varilhheterozygous LowVariantFreq 1341 744
9880CFMontpellier160218_varilhheterozygous LowVariantFreq 738 590





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