GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DFNB59 T54Iinsufficiently evaluated pathogenicunknown

(22 web hits)

DFNB59 R167Xinsufficiently evaluated pathogenicunknown

(11 web hits)

DFNB59 R183Winsufficiently evaluated pathogenicunknown

(40 web hits)

DFNB59 R265Cinsufficiently evaluated none, f=0.066unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
DFNB59 R265Ginsufficiently evaluated not reviewed, f=0.031unknown var-GS19703-1100-36-ASM
var-GS10851-1100-36-ASM
DFNB59 G292Rinsufficiently evaluated benign, f=0.025recessive

This variant was seen homozygously in an Iranian individual with non-syndromic hearing loss. Its frequency in 1000 genomes data makes p. benign.

(1 web hit)

CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS18940-1100-36-ASM
Total results: 6

Gene search

"GENE" or "GENE A123C":

Log in