catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.1847T>C
Protein name NP_000483.3:p.(Ile616Thr)
Genomic name (hg19) chr7:g.117232068T>C    UCSC    gnomAD
#Exon/intron exon 14
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
Subclass VUS3
WT sequence GAACATTTAAAGAAAGCTGACAAAA T ATTAATTTTGCATGAAGGTAGCAGC
Mutant sequence GAACATTTAAAGAAAGCTGACAAAA C ATTAATTTTGCATGAAGGTAGCAGC


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

External sources:

Not found
Not found		dbSNP
no rs

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C25 0.00174 0.01 0.857
VUS2 VUS5 VUS5 VUS4
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing


No patient found in CFTR-NGS

No patient found in CFTR-France







Go to CFTRare
VLMCHUUM