catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117301728C/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3964-3014C>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117301728C>G    UCSC    gnomAD
#Exon/intron intron 24
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TCACACAAAGGTAGTGTTTCAGTTC C TGAGCCCATGTCCTTGGAGTTGCCC
Mutant sequence TCACACAAAGGTAGTGTTTCAGTTC G TGAGCCCATGTCCTTGGAGTTGCCC


Additional information:
MAF (GnomAD) 1.26e-03
Splicing prediction (SpliceAI) AG: 0.00 (-15)
AL: 0.00 (-16)
DG: 0.00 (-1)
DL: 0.00 (-16)




External sources:

Not found
Not found		dbSNP
rs187969239
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


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

TOTAL NUMBER OF INDIVIDUALS 2
Asymptomatic 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m2762AsymptomaticMontpellier230414_varilhheterozygous PASS 4204 503
9004AsymptomaticMontpellier40216_varilhheterozygous PASS 2729 358





Go to CFTRare
VLMCHUUM