catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117189267C/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1392+390C>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117189267C>A    UCSC    gnomAD
#Exon/intron intron 10
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CATTTTGCCTTAGTAACCACATAAA C AAAAGGTCTCCATTTTTGTTAACAT
Mutant sequence CATTTTGCCTTAGTAACCACATAAA A AAAAGGTCTCCATTTTTGTTAACAT


Additional information:
MAF (GnomAD) 1.45e-05
Splicing prediction (SpliceAI) AG: 0.00 (5)
AL: 0.00 (6)
DG: 0.00 (-14)
DL: 0.00 (5)




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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