catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117147665C/G


CFTR-NGS Variant details:
Name NM_000492.4:c.165-1423C>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117147665C>G    UCSC    gnomAD
#Exon/intron intron 2
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AAATGTTATGGATGGGAGGTTAGCT C TGTGTGTGAGAGAAAGGTGGAGAAG
Mutant sequence AAATGTTATGGATGGGAGGTTAGCT G TGTGTGTGAGAGAAAGGTGGAGAAG


Additional information:
MAF (GnomAD) 1.31e-03
Splicing prediction (SpliceAI) AG: 0.00 (13)
AL: 0.00 (-16)
DG: 0.00 (-32)
DL: 0.00 (-8)




External sources:

Not found

Not found
dbSNP
rs183726240

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-RD1
  • CFTR-RD  1
Pending (NBS) 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
5CFTR-RDMontpellier150517_varilhheterozygous PASS 3747 334
11Pending (NBS)Montpellier150517_varilhheterozygous PASS 4120 320





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