catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117251789G/C


CFTR-NGS Variant details:
Name NM_000492.4:c.3294G>C
Protein name NP_000483.3:p.(Trp1098Cys)
Genomic name (hg19) chr7:g.117251789G>C    UCSC    gnomAD
#Exon/intron exon 20
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
WT sequence TCTTGTACCTGTCAACACTGCGCTG G TTCCAAATGAGAATAGAAATGATTT
Mutant sequence TCTTGTACCTGTCAACACTGCGCTG C TTCCAAATGAGAATAGAAATGATTT


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (17)
AL: 0.00 (-1)
DG: 0.00 (45)
DL: 0.00 (-1)

External sources:

Not found		 dbSNP
no rs

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C15 0.00041 0.08 1
VUS1 VUS5 VUS4 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



1 individuals carrying this variant are reported in CFTR-France


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
Pending (NBS) 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
5543Pending (NBS)Montpellier40216_varilhheterozygous PASS 2553 235





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