HNF4A c.926G>A ;(p.R309H)

Variant ID: 20-43052757-G-A

NM_175914.4(HNF4A):c.926G>A;(p.R309H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.

Diabetologia
Harsunen, Minna M; Kettunen, Jarno L T JLT; Härkönen, Taina T; Dwivedi, Om O; Lehtovirta, Mikko M; Vähäsalo, Paula P; Veijola, Riitta R; Ilonen, Jorma J; Miettinen, Päivi J PJ; Knip, Mikael M; Tuomi, Tiinamaija T
Publication Date: 2022-11-23

Variant appearance in text: HNF4A: 926G>A
PubMed Link: 36418577
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

American Journal Of Human Genetics
Mirshahi, Uyenlinh L UL; Colclough, Kevin K; Wright, Caroline F CF; Wood, Andrew R AR; Beaumont, Robin N RN; Tyrrell, Jessica J; Laver, Thomas W TW; Stahl, Richard R; Golden, Alicia A; Goehringer, Jessica M JM; , ; Frayling, Timothy F TF; Hattersley, Andrew T AT; Carey, David J DJ; Weedon, Michael N MN; Patel, Kashyap A KA
Publication Date: 2022-11-03

Variant appearance in text: HNF4A: 926G>A; Arg309His
PubMed Link: 36257325
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2022-08-30

Variant appearance in text: HNF4A: 926G>A; Arg309His; rs369429452
PubMed Link: 36042188
Variant Present in the following documents:
  • 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page