catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.-966T>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117119183T>G    UCSC    gnomAD
#Exon/intron UTR 5
Legacy Name -834T/G ; -895T/G (from the cap site)
Type in CFTR-NGS catalogue -
Class in CFTR-France non disease-causing
WT sequence TTATCGCTAAAACACTCCAAAGCCT T CCTTAAAAATGCGCACTGGGCTAAA
Mutant sequence TTATCGCTAAAACACTCCAAAGCCT G CCTTAAAAATGCGCACTGGGCTAAA


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





External sources:

Not found		dbSNP
no rs
Not found
Not found

Variant validation:
Sanger
(present/not present/not verified)
 Minigene
(effect/no effect/not performed)
presentnot performed


No patient found in CFTR-NGS

8 individuals reported in CFTR-France







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