catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117243802AG/A


CFTR-NGS Variant details:
Name NM_000492.4:c.2875del
Protein name NP_000483.3:p.(Ala959Hisfs*9)
Genomic name (hg19) chr7:g.117243803del    UCSC    
#Exon/intron exon 17
Legacy Name 3007delG
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence CAAAATGTTACATTCTGTTCTTCAA G CACCTATGTCAACCCTCAACACGTT
Mutant sequence CAAAATGTTACATTCTGTTCTTCAA - CACCTATGTCAACCCTCAACACGTT


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (-43)
AL: 0.00 (2)
DG: 0.04 (34)
DL: 0.00 (30)




External sources:
dbSNP
rs397508447
Not found

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



16 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
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m1558CFMontpellier230414_varilhheterozygous PASS 5410 326





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