catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117188679TG/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1210-15delG
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117188680del    UCSC    
#Exon/intron intron 9
Type in CFTR-NGS catalogue TG-T
Class in CFTR-France not reported
WT sequence TTTTGATGTGTGTGTGTGTGTGTGT G TGTTTTTTTAACAGGGATTTGGGGA
Mutant sequence TTTTGATGTGTGTGTGTGTGTGTGT - TGTTTTTTTAACAGGGATTTGGGGA


Additional information:
MAF (GnomAD) 0.00e+00
Splicing prediction (SpliceAI) AG: 0.01 (16)
AL: 0.00 (18)
DG: 0.00 (-12)
DL: 0.00 (-2)




External sources:

Not found
Not found		dbSNP
rs371831442
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
m2369CFMontpellier230414_varilhheterozygous PASS 712 103





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