catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117227832G/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1624G>T
Protein name NP_000483.3:p.(Gly542*)
Genomic name (hg19) chr7:g.117227832G>T    UCSC    gnomAD
#Exon/intron exon 12
Legacy Name G542X
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TGCAGAGAAAGACAATATAGTTCTT G GAGAAGGTGGAATCACACTGAGTGG
Mutant sequence TGCAGAGAAAGACAATATAGTTCTT T GAGAAGGTGGAATCACACTGAGTGG


Additional information:
MAF (GnomAD) 2.86e-04
Splicing prediction (SpliceAI) AG: 0.00 (-46)
AL: 0.13 (-39)
DG: 0.00 (-47)
DL: 0.00 (27)




External sources:
dbSNP
no rs

Not found

Variant validation:
Sanger
(present/not present/not verified)
Minigene
(effect/no effect/not performed)
presentnot performed



226 individuals carrying this variant are reported in CFTR-France


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

TOTAL NUMBER OF INDIVIDUALS 3
Asymptomatic 1
CF 1
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07318AsymptomaticMontpellier100714_varilhheterozygous PASS 740 83
9777CFMontpellier160218_varilhheterozygous PASS 4437 461
m8107CFTR-RDMontpellier150419_Altieriheterozygous PASS 1519 218





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