catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.3868C>A
Protein name NP_000483.3:p.(Pro1290Thr)
Genomic name (hg19) chr7:g.117282642C>A    UCSC    gnomAD
#Exon/intron exon 23
Legacy Name P1290T
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
Subclass VUS1
WT sequence GTGGAGGAAAGCCTTTGGAGTGATA C CACAGGTGAGCAAAAGGACTTAGCC
Mutant sequence GTGGAGGAAAGCCTTTGGAGTGATA A CACAGGTGAGCAAAAGGACTTAGCC


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

External sources:

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
C0 0.795 0.55 0.208
VUS1 VUS1 VUS1 VUS2
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing


No patient found in CFTR-NGS

1 individual reported in CFTR-France







Go to CFTRare
VLMCHUUM