catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117273998T/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3717+6174T>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117273998T>G    UCSC    gnomAD
#Exon/intron intron 22
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TTGCATTGGTGTTCATGAAAAAATA T TGGTGTGTAGTTTTTTGTGACATCT
Mutant sequence TTGCATTGGTGTTCATGAAAAAATA G TGGTGTGTAGTTTTTTGTGACATCT


Additional information:
MAF (GnomAD) 3.00e-04
Splicing prediction (SpliceAI) AG: 0.00 (1)
AL: 0.00 (47)
DG: 0.00 (-1)
DL: 0.00 (46)




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
CFTR-RD2
  • CFTR-RD  2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
3357CFTR-RDMontpellier40216_varilhheterozygous PASS 3132 329
8442CFTR-RDMontpellier40216_varilhheterozygous PASS 4136 375





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