catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117282648G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3873+1G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117282648G>A    UCSC    gnomAD
#Exon/intron intron 23
Legacy Name 4005+1G>A
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence GAAAGCCTTTGGAGTGATACCACAG G TGAGCAAAAGGACTTAGCCAGAAAA
Mutant sequence GAAAGCCTTTGGAGTGATACCACAG A TGAGCAAAAGGACTTAGCCAGAAAA


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (28)
AL: 0.00 (-30)
DG: 0.07 (28)
DL: 0.98 (-1)




External sources:
dbSNP
no rs
Not found

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



17 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
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
cad200369Suspicion of CFMontpellier151220_Altieriheterozygous PASS 2818 462





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