catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117199564G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1439G>A
Protein name NP_000483.3:p.(Gly480Asp)
Genomic name (hg19) chr7:g.117199564G>A    UCSC    gnomAD
#Exon/intron exon 11
Legacy Name G480D
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
Subclass VUS5
WT sequence ATGGGAGAACTGGAGCCTTCAGAGG G TAAAATTAAGCACAGTGGAAGAATT
Mutant sequence ATGGGAGAACTGGAGCCTTCAGAGG A TAAAATTAAGCACAGTGGAAGAATT


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (-46)
AL: 0.09 (41)
DG: 0.00 (4)
DL: 0.00 (-1)




External sources:

Not found
Not found		dbSNP
rs397508208
Not found

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



1 individuals carrying this variant are reported in CFTR-France


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
cad200291Suspicion of CFMontpellier151220_Altieriheterozygous LowVariantFreq 164 195





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