catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.3719T>G
Protein name NP_000483.3:p.(Val1240Gly)
Genomic name (hg19) chr7:g.117282493T>G    UCSC    gnomAD
#Exon/intron exon 23
Legacy Name V1240G
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
WT sequence GATCCCATCACTTTTACCTTATAGG T GGGCCTCTTGGGAAGAACTGGATCA
Mutant sequence GATCCCATCACTTTTACCTTATAGG G GGGCCTCTTGGGAAGAACTGGATCA


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

External sources:
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
0 0.992
no class no class VUS5 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing


No patient found in CFTR-NGS

No patient found in CFTR-France







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