catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117294477G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3963+1492G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117294477G>A    UCSC    gnomAD
#Exon/intron intron 24
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TAGGGTGGTGGAGATGTATGGCAAT G GAGTATGGGGAGCTGATATGGTTTG
Mutant sequence TAGGGTGGTGGAGATGTATGGCAAT A GAGTATGGGGAGCTGATATGGTTTG


Additional information:
MAF (GnomAD) 2.09e-02
Splicing prediction (SpliceAI) AG: 0.00 (2)
AL: 0.00 (-34)
DG: 0.00 (2)
DL: 0.00 (26)




External sources:

Not found
Not found		dbSNP
rs77041199
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 1
Suspicion of CF 5



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9005AsymptomaticMontpellier40216_varilhheterozygous PASS 560 50
7648Suspicion of CFMontpellier40216_varilhheterozygous PASS 171 24
8892Suspicion of CFMontpellier40216_varilhheterozygous PASS 410 49
cad190405Suspicion of CFMontpellier151220_Altieriheterozygous PASS 2116 253
cad190461Suspicion of CFMontpellier151220_Altieriheterozygous PASS 3307 401
cad200365Suspicion of CFMontpellier151220_Altieriheterozygous PASS 2387 363





Go to CFTRare
VLMCHUUM