catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117305945C/G


CFTR-NGS Variant details:
Name NM_000492.4:c.4242+327C>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117305945C>G    UCSC    gnomAD
#Exon/intron intron 26
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CTGTTTAAGATTTTAAAAAAGGTCC C TGTGATTCTTTCAATAACTAAATGT
Mutant sequence CTGTTTAAGATTTTAAAAAAGGTCC G TGTGATTCTTTCAATAACTAAATGT


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (-16)
AL: 0.00 (49)
DG: 0.00 (-5)
DL: 0.00 (17)




External sources:

Not found

Not found
dbSNP
no rs

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 1
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9005AsymptomaticMontpellier40216_varilhheterozygous PASS 2485 257
8892Suspicion of CFMontpellier40216_varilhheterozygous PASS 1808 173





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