catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117214451A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.1585-13342A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117214451A>G    UCSC    gnomAD
#Exon/intron intron 11
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ATTTTATTCCAGATTCAGCAGCTTC A TATTATGTCTCTGAAACACTTATTA
Mutant sequence ATTTTATTCCAGATTCAGCAGCTTC G TATTATGTCTCTGAAACACTTATTA


Additional information:
MAF (GnomAD) 2.07e-02
Splicing prediction (SpliceAI) AG: 0.07 (-13)
AL: 0.00 (17)
DG: 0.00 (41)
DL: 0.00 (1)




External sources:

Not found
Not found		dbSNP
rs182460
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
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
cad200419Suspicion of CFMontpellier151220_Altieriheterozygous PASS 479 57





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