catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117221885G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1585-5908G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117221885G>A    UCSC    gnomAD
#Exon/intron intron 11
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AATGGAGTGATCACGGTTCATTGCA G CCTTGACCTCCTGGGCTCAAGCGAT
Mutant sequence AATGGAGTGATCACGGTTCATTGCA A CCTTGACCTCCTGGGCTCAAGCGAT


Additional information:
MAF (GnomAD) 4.54e-03
Splicing prediction (SpliceAI) AG: 0.00 (48)
AL: 0.01 (-35)
DG: 0.00 (-35)
DL: 0.00 (1)




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


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
8442CFTR-RDMontpellier40216_varilhheterozygous PASS 900 71





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