catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.54-5811_164+2186delins182
Protein name NP_000483.3:p.?
Genomic name (hg19) chr7:g.117138496_117146603delins182    UCSC    
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence AATCAGAGGAGGGGAAATTAGTAAC TTGACC [8096bp] CTTTGA ATATCTAAGTTTTAATTGGATGCTG
Mutant sequence AATCAGAGGAGGGGAAATTAGTAAC 182------------------- ATATCTAAGTTTTAATTGGATGCTG


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





External sources:

Not found
Not found		dbSNP
no rs
Not found
Not found

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


No patient found in CFTR-NGS

9 individuals reported in CFTR-France







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