catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117244152G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.2908+316G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117244152G>A    UCSC    gnomAD
#Exon/intron intron 17
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AATATTTGGTCTAGCTCTCTTCTGG G CATCTTGTTGCCAATATATAGTATT
Mutant sequence AATATTTGGTCTAGCTCTCTTCTGG A CATCTTGTTGCCAATATATAGTATT


Additional information:
MAF (GnomAD) 6.42e-04
Splicing prediction (SpliceAI) AG: 0.00 (-11)
AL: 0.00 (-48)
DG: 0.00 (49)
DL: 0.00 (-48)




External sources:

Not found
Not found		dbSNP
rs866135770
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


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
17MU00956CFTR-RDCochin150419_Altieriheterozygous PASS 2253 252





Go to CFTRare
VLMCHUUM