catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117227199A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.1585-594A>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117227199A>G    UCSC    gnomAD
#Exon/intron intron 11
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AAGGATGACAGGAGGGGCAGAATGA A TGGAGAGAGGTCGTGAGAATGAGGT
Mutant sequence AAGGATGACAGGAGGGGCAGAATGA G TGGAGAGAGGTCGTGAGAATGAGGT


Additional information:
MAF (GnomAD) 5.03e-04
Splicing prediction (SpliceAI) AG: 0.00 (-26)
AL: 0.00 (-46)
DG: 0.00 (-1)
DL: 0.00 (23)




External sources:

Not found
Not found		dbSNP
rs527358122
Not found

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



No patient found in CFTR-France


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

TOTAL NUMBER OF INDIVIDUALS 1
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
18MU01177CFCochin150419_Altieriheterozygous PASS 4931 413





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