catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117180401G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1116+1G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117180401G>A    UCSC    gnomAD
#Exon/intron intron 8
Legacy Name 1248+1G>A
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TCTTGGAGCAATAAACAAAATACAG G TAATGTACCATAATGCTGCATTATA
Mutant sequence TCTTGGAGCAATAAACAAAATACAG A TAATGTACCATAATGCTGCATTATA


Additional information:
MAF (GnomAD) 6.98e-06
Splicing prediction (SpliceAI) AG: 0.00 (-46)
AL: 0.00 (-17)
DG: 0.69 (-35)
DL: 0.89 (-1)




External sources:
dbSNP
no rs

Not found

Variant validation:
Sanger
(present/not present/not verified)
Minigene
(effect/no effect/not performed)
presentnot performed



6 individuals carrying this variant are reported in CFTR-France


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
P1BCFMontpellier230414_varilhheterozygous PASS 3557 323





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