catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117232273A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.2052A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117232273A>G    UCSC    gnomAD
#Exon/intron exon 14
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CTGTCTCCTGGACAGAAACAAAAAA A CAATCTTTTAAACAGACTGGAGAGT
Mutant sequence CTGTCTCCTGGACAGAAACAAAAAA G CAATCTTTTAAACAGACTGGAGAGT


Additional information:
MAF (GnomAD) 3.49e-05
Splicing prediction (SpliceAI) AG: 0.10 (-37)
AL: 0.03 (16)
DG: 0.00 (-37)
DL: 0.00 (16)




External sources:

Not found
Not found		dbSNP
rs750642366
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


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

TOTAL NUMBER OF INDIVIDUALS 2
Suspicion of CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
csg182477Suspicion of CFMontpellier151220_Altieriheterozygous LowVariantFreq 346 122
csg182478Suspicion of CFMontpellier151220_Altieriheterozygous LowVariantFreq 409 127





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