catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117157115G/C


CFTR-NGS Variant details:
Name NM_000492.4:c.273+7919G>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117157115G>C    UCSC    gnomAD
#Exon/intron intron 3
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ACTCTATAAAACATGTTCTATCCAG G AAAAGAAACTATCATCAGAGTGAAC
Mutant sequence ACTCTATAAAACATGTTCTATCCAG C AAAAGAAACTATCATCAGAGTGAAC


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (-47)
AL: 0.46 (0)
DG: 0.00 (-35)
DL: 0.00 (-48)




External sources:

Not found

Not found
dbSNP
rs915396616

Not found

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


No patient found in CFTR-NGS

No patient found in CFTR-France







Go to CFTRare
VLMCHUUM