catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117252060GATATATATATATATATGTATATATATATATATATATATATATATATAC/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3367+212_3367+259del48
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117252074_117252121del    UCSC    
#Exon/intron intron 20
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CCTTGAAATCGGATATATATATATA TATGTA [36bp] TATATA GTATTATCCCTGTTTTCACAGTTTT
Mutant sequence CCTTGAAATCGGATATATATATATA -------------------- GTATTATCCCTGTTTTCACAGTTTT


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) -




External sources:

Not found
Not found		dbSNP
no rs
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
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
P1CoCFTR-RDMontpellier230414_varilhheterozygous LowVariantFreq 438 254





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