catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117239688C/A


CFTR-NGS Variant details:
Name NM_000492.4:c.2620-3192C>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117239688C>A    UCSC    gnomAD
#Exon/intron intron 15
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ATAGTTTTGGCCAGTATCCTCTAGA C CTTGCCAGTTAACTGGCTCTCAAAA
Mutant sequence ATAGTTTTGGCCAGTATCCTCTAGA A CTTGCCAGTTAACTGGCTCTCAAAA


Additional information:
MAF (GnomAD) 5.17e-04
Splicing prediction (SpliceAI) AG: 0.00 (22)
AL: 0.00 (-1)
DG: 0.00 (-40)
DL: 0.00 (45)




External sources:

Not found

Not found
dbSNP
rs781482891

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 1134 204





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