catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117188663T/G


CFTR-NGS Variant details:
Name NM_000492.4:c.1210-32T>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117188663T>G    UCSC    gnomAD
#Exon/intron intron 9
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ACAAACTCATCTTTTATTTTTGATG T GTGTGTGTGTGTGTGTGTGTTTTTT
Mutant sequence ACAAACTCATCTTTTATTTTTGATG G GTGTGTGTGTGTGTGTGTGTTTTTT


Additional information:
MAF (GnomAD) 0.00e+00
Splicing prediction (SpliceAI) AG: 0.00 (1)
AL: 0.04 (32)
DG: 0.00 (0)
DL: 0.00 (4)




External sources:

Not found
Not found		dbSNP
rs886044712
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
Asymptomatic 1
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07621AsymptomaticMontpellier100714_varilhheterozygous LowVariantFreq 409 107
3641CFTR-RDMontpellier40216_varilhheterozygous LowQD 275 302





Go to CFTRare
VLMCHUUM