catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117275513T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.3718-6979T>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117275513T>C    UCSC    gnomAD
#Exon/intron intron 22
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TATTTTAAGTGATTATTGATATAGT T AGATAAACATCTACTATATTTATTA
Mutant sequence TATTTTAAGTGATTATTGATATAGT C AGATAAACATCTACTATATTTATTA


Additional information:
MAF (GnomAD) 1.24e-03
Splicing prediction (SpliceAI) AG: 0.00 (-16)
AL: 0.00 (-3)
DG: 0.00 (34)
DL: 0.00 (-44)




External sources:

Not found

Not found
dbSNP
rs141859475

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
m1552Suspicion of CFMontpellier230414_varilhheterozygous PASS 879 69





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