catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117237012C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.2619+1900C>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117237012C>T    UCSC    gnomAD
#Exon/intron intron 15
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CAGGGATTGTAAACGCACCAATCAG C ACCCTGTCAAAACGGACCAATCAGC
Mutant sequence CAGGGATTGTAAACGCACCAATCAG T ACCCTGTCAAAACGGACCAATCAGC


Additional information:
MAF (GnomAD) 5.58e-03
Splicing prediction (SpliceAI) AG: 0.00 (25)
AL: 0.00 (-22)
DG: 0.00 (-2)
DL: 0.00 (30)




External sources:

Not found
Not found		dbSNP
rs143864002
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


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

TOTAL NUMBER OF INDIVIDUALS 5
Asymptomatic 1
Suspicion of CF 4



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9005AsymptomaticMontpellier40216_varilhheterozygous PASS 99 12
8892Suspicion of CFMontpellier40216_varilhheterozygous PASS 270 25
cad190405Suspicion of CFMontpellier151220_Altieriheterozygous PASS 463 61
cad190461Suspicion of CFMontpellier151220_Altieriheterozygous PASS 1808 125
cad200365Suspicion of CFMontpellier151220_Altieriheterozygous PASS 596 93





Go to CFTRare
VLMCHUUM