catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117180993A/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1116+593A>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117180993A>T    UCSC    gnomAD
#Exon/intron intron 8
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GCAATTAAAAATTGGGAGATGTCTC A CACACACACACACATAAACACACAC
Mutant sequence GCAATTAAAAATTGGGAGATGTCTC T CACACACACACACATAAACACACAC


Additional information:
MAF (GnomAD) 6.09e-04
Splicing prediction (SpliceAI) AG: 0.00 (14)
AL: 0.00 (40)
DG: 0.00 (13)
DL: 0.00 (-24)




External sources:

Not found
Not found		dbSNP
rs752625014
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


2 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 2
CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
21CFMontpellier150517_varilhheterozygous PASS 2308 309
22CFMontpellier150517_varilhheterozygous PASS 2755 346





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