catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.154A>T
Protein name NP_000483.3:p.(Lys52Ter)
Genomic name (hg19) chr7:g.117144407A>T    UCSC    gnomAD
#Exon/intron exon 2
Legacy Name K52X
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TGATTCTGCTGACAATCTATCTGAA A AATTGGAAAGGTATGTTCATGTACA
Mutant sequence TGATTCTGCTGACAATCTATCTGAA T AATTGGAAAGGTATGTTCATGTACA


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) -




External sources:

Not found
dbSNP
no rs

Not found

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


No patient found in CFTR-NGS

No patient found in CFTR-France







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