catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117218613T/TGTTGTCCAAGGGC


CFTR-NGS Variant details:
Name NM_000492.4:c.1585-9167_1585-9155dup13
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117218626_117218638dup    UCSC    
#Exon/intron intron 11
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GTTGTCCAAGGGCGTTGTCCAAGGG ------------- TCAGTTGTAATTGGTATTTTGGATA
Mutant sequence GTTGTCCAAGGGCGTTGTCCAAGGG CGTTGTCCAAGGG TCAGTTGTAATTGGTATTTTGGATA


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) -




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-NGS

No patient found in CFTR-France







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