catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117282505G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3731G>A
Protein name NP_000483.3:p.(Gly1244Glu)
Genomic name (hg19) chr7:g.117282505G>A    UCSC    gnomAD
#Exon/intron exon 23
Legacy Name G1244E
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TTTACCTTATAGGTGGGCCTCTTGG G AAGAACTGGATCAGGGAAGAGTACT
Mutant sequence TTTACCTTATAGGTGGGCCTCTTGG A AAGAACTGGATCAGGGAAGAGTACT


Additional information:
MAF (GnomAD) 6.98e-06
Splicing prediction (SpliceAI) AG: 0.01 (-13)
AL: 0.00 (-41)
DG: 0.00 (4)
DL: 0.00 (-14)

External sources:
dbSNP
no rs

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


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



18 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
6150Pending (NBS)Montpellier40216_varilhheterozygous PASS 2872 296





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