GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HNF4A T117Iinsufficiently evaluated noneunknown
HNF4A R127Winsufficiently evaluated pathogenicunknown

(54 web hits)

HNF4A T139Iinsufficiently evaluated not reviewed, f=0.024unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS10851-1100-36-ASM
HNF4A R154Xinsufficiently evaluated pathogenicunknown

(64 web hits)

HNF4A V169Iuncertain benign, f=0.000unknown

Reported to cause maturity onset diabetes of the young (MODY, or monogenic diabetes). This effect is reported as “likely pathogenic” in ClinVar by LabCorp (http://www.ncbi.nlm.nih.gov/clinvar/RCV000030023/). However, according to ExAC this variant is much more frequent in south asian ancestry, where it has an allele frequency of 1.5% (about 1 in 35 carry the variant). This is very strong evidence against it causing this disease, and the reported effect should be considered disproven.

CGI sample GS000006909
HNF4A P190Sinsufficiently evaluated not reviewedunknown
HNF4A P212Sinsufficiently evaluated not reviewedunknown

(1 web hit)

HNF4A P256Linsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
HNF4A Q268Xinsufficiently evaluated pathogenicunknown

(53 web hits)

HNF4A M364Rinsufficiently evaluated pathogenicunknown

(6 web hits)

HNF4A V393Iinsufficiently evaluated pathogenicunknown

(16 web hits)

HNF4A I431Vinsufficiently evaluated noneunknown
HNF4A I441Vinsufficiently evaluated noneunknown
HNF4A I453Vinsufficiently evaluated noneunknown
HNF4A I463Vinsufficiently evaluated none, f=0.000unknown
Page: 1 2
Total results: 15

Gene search

"GENE" or "GENE A123C":

Log in