catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117261154C/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3468+6387C>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117261154C>G    UCSC    gnomAD
#Exon/intron intron 21
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CTGGTGACAGGGTGAGACTCCATCA C AAACAAAACAAAACAAAAGAAAGCA
Mutant sequence CTGGTGACAGGGTGAGACTCCATCA G AAACAAAACAAAACAAAAGAAAGCA


Additional information:
MAF (GnomAD) 2.03e-04
Splicing prediction (SpliceAI) AG: 0.00 (-15)
AL: 0.00 (20)
DG: 0.00 (-15)
DL: 0.00 (2)




External sources:

Not found
Not found		dbSNP
rs763373931
Not found

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



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 1
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9881AsymptomaticMontpellier160218_varilhheterozygous PASS 5391 527
9880CFMontpellier160218_varilhheterozygous PASS 4321 384





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