catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117144625T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.164+208T>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117144625T>C    UCSC    gnomAD
#Exon/intron intron 2
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GAGTTTGATACCAGCCTGGGCAACA T AGCAAGATGTTATCTCTACACAAAA
Mutant sequence GAGTTTGATACCAGCCTGGGCAACA C AGCAAGATGTTATCTCTACACAAAA


Additional information:
MAF (GnomAD) 2.24e-03
Splicing prediction (SpliceAI) AG: 0.00 (32)
AL: 0.00 (20)
DG: 0.00 (32)
DL: 0.00 (6)




External sources:

Not found
Not found		dbSNP
rs34248182
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 PASS 434 33
9663CFTR-RDMontpellier160218_varilhheterozygous PASS 1530 126





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