catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117179059A/C


CFTR-NGS Variant details:
Name NM_000492.4:c.870-1095A>C
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117179059A>C    UCSC    gnomAD
#Exon/intron intron 7
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AGAATGAGAATAGCTTTTCTGAATT A TACAAGGAAGAAGAACTAATGCCCA
Mutant sequence AGAATGAGAATAGCTTTTCTGAATT C TACAAGGAAGAAGAACTAATGCCCA


Additional information:
MAF (GnomAD) 3.98e-04
Splicing prediction (SpliceAI) AG: 0.00 (7)
AL: 0.00 (2)
DG: 0.35 (33)
DL: 0.00 (-3)




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
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
csg183926Suspicion of CFMontpellier151220_Altieriheterozygous PASS 3827 307





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