catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117186558G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1210-2137G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117186558G>A    UCSC    gnomAD
#Exon/intron intron 9
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ATGTAAATATAAATATAAATGTGTG G AGTGATATCCATTGAAATGTTAAAC
Mutant sequence ATGTAAATATAAATATAAATGTGTG A AGTGATATCCATTGAAATGTTAAAC


Additional information:
MAF (GnomAD) 2.24e-04
Splicing prediction (SpliceAI) AG: 0.00 (30)
AL: 0.00 (-5)
DG: 0.00 (-47)
DL: 0.00 (50)




External sources:

Not found

Not found
dbSNP
rs577325324

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


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

TOTAL NUMBER OF INDIVIDUALS 3
CF 3



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m6426CFMontpellier230414_varilhheterozygous PASS 925 76
P1BCFMontpellier230414_varilhheterozygous PASS 3964 288
9886CFMontpellier160218_varilhheterozygous PASS 762 74





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