catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117250151G/T


CFTR-NGS Variant details:
Name NM_000492.4:c.2989-422G>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117250151G>T    UCSC    gnomAD
#Exon/intron intron 18
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
Subclass VUS3
WT sequence TCATGTCCTTTGTAGGGACATGGAT G AAATTGGAAAACATCATTCTCAGTA
Mutant sequence TCATGTCCTTTGTAGGGACATGGAT T AAATTGGAAAACATCATTCTCAGTA


Additional information:
MAF (GnomAD) 1.70e-03
Splicing prediction (SpliceAI) AG: 0.00 (27)
AL: 0.00 (-10)
DG: 0.00 (-15)
DL: 0.00 (22)




External sources:

Not found

Not found
dbSNP
no rs

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







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