catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117250444AAAAAT/A


CFTR-NGS Variant details:
Name NM_000492.4:c.2989-124_2989-120del5
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117250449_117250453del    UCSC    
#Exon/intron intron 18
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AAAACTTAAAGTATAATAAAAAAAA TAAAA AAAAGTTTGAGGTGTTTAAAGTATG
Mutant sequence AAAACTTAAAGTATAATAAAAAAAA ----- AAAAGTTTGAGGTGTTTAAAGTATG


Additional information:
MAF (GnomAD) 1.06e-04
Splicing prediction (SpliceAI) -




External sources:

Not found
Not found		dbSNP
rs536728538
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
Asymptomatic 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m8583AsymptomaticMontpellier150419_Altieriheterozygous PASS 232 124





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