catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117224971GT/G


CFTR-NGS Variant details:
Name NM_000492.4:c.1585-2810delT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117224983del    UCSC    
#Exon/intron intron 11
Type in CFTR-NGS catalogue repeat
Class in CFTR-France not reported
WT sequence TTCATGTATTTTAGTTTTTTTTTTT T GTTTGTTTTGTTTTGTTTTGTTTTG
Mutant sequence TTCATGTATTTTAGTTTTTTTTTTT - GTTTGTTTTGTTTTGTTTTGTTTTG


Additional information:
MAF (GnomAD) 2.10e-04
Splicing prediction (SpliceAI) AG: 0.00 (47)
AL: 0.00 (1)
DG: 0.00 (-26)
DL: 0.00 (47)




External sources:

Not found
Not found		dbSNP
no rs
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


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

TOTAL NUMBER OF INDIVIDUALS 6
Asymptomatic 2
CFTR-RD2
  • CFTR-RD  2
Pending (NBS) 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07381AsymptomaticMontpellier100714_varilhhomozygous alleleBias 2995 0
MUCO07585AsymptomaticMontpellier100714_varilhheterozygous PASS 3133 0
3357CFTR-RDMontpellier40216_varilhheterozygous alleleBias 2992 0
8442CFTR-RDMontpellier40216_varilhheterozygous alleleBias 2992 0
5543Pending (NBS)Montpellier40216_varilhheterozygous alleleBias 2992 0
5847Pending (NBS)Montpellier40216_varilhheterozygous alleleBias 2992 0





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