Variant NM_000492.4:c.1584+53_1584+63dup


Variant details:
Name NM_000492.4:c.1584+53_1584+63dup
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117199762_117199772dup    UCSC    
#Exon/intron intron 11
Class VUS
WT sequence TTATGCATATGAACCCTTCACACTA CCCAAATTATA----------- TATTTGGCTCCATATTCAATCGGTT
Mutant sequence TTATGCATATGAACCCTTCACACTA CCCAAATTATACCCAAATTATA TATTTGGCTCCATATTCAATCGGTT






External sources:

Not found
Not found		dbSNP
rs397508232
Not found






No patient found in CFTR-NGS catalogue

No patient found in CFTR-France



            CFTR variants are clustered into five groups:
  • CF-causing: when in trans with another CF-causing mutation, will result in CF.
  • CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011.
  • Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
  • Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
  • VUS (Variant of unknown clinical significance): unclassified because of insufficient data.



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