catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117292931C/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3909C>G
Protein name NP_000483.3:p.(Asn1303Lys)
Genomic name (hg19) chr7:g.117292931C>G    UCSC    gnomAD
#Exon/intron exon 24
Legacy Name N1303K
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TTTTTTCTGGAACATTTAGAAAAAA C TTGGATCCCTATGAACAGTGGAGTG
Mutant sequence TTTTTTCTGGAACATTTAGAAAAAA G TTGGATCCCTATGAACAGTGGAGTG


Additional information:
MAF (GnomAD) 1.61e-04
Splicing prediction (SpliceAI) AG: 0.00 (-6)
AL: 0.00 (-31)
DG: 0.00 (-6)
DL: 0.00 (-15)

External sources:
dbSNP
rs80034486

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C65 6e-05 0 1
VUS5 VUS5 VUS5 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



173 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 3



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07300AsymptomaticMontpellier100714_varilhheterozygous PASS 706 75
MUCO07621AsymptomaticMontpellier100714_varilhheterozygous PASS 1256 113
MUCO07658AsymptomaticMontpellier100714_varilhheterozygous PASS 2225 176





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