GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
SCNN1G G183Sinsufficiently evaluated pathogenic, f=0.012other

This variant is associated with weak gain-of-function effect leading to bronchiectasis in one female of African origin.

(1 web hit)

SCNN1G E197Kuncertain pathogenic, f=0.006dominant

May cause slight increased risk of rare, CFTR-like disease.

(1 web hit)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS00253-DNA_C01_200_37
SCNN1G W574Xinsufficiently evaluated pathogenicunknown
Total results: 3

Gene search

"GENE" or "GENE A123C":

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