catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117140127A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.54-4180A>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117140127A>G    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ATGATCACTGATTTCTAGTGGAAGA A ATGCTGAAAAGTCCTTACTGTGCAT
Mutant sequence ATGATCACTGATTTCTAGTGGAAGA G ATGCTGAAAAGTCCTTACTGTGCAT


Additional information:
MAF (GnomAD) 9.69e-03
Splicing prediction (SpliceAI) AG: 0.00 (-7)
AL: 0.00 (-29)
DG: 0.00 (38)
DL: 0.00 (10)




External sources:

Not found

Not found
dbSNP
rs145686078

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
Pending (NBS) 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
3190Pending (NBS)Montpellier40216_varilhheterozygous PASS 3044 323
13Pending (NBS)Montpellier150517_varilhheterozygous PASS 3413 325





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