HNF4A c.439G>A ;(p.V147I)

Variant ID: 20-43043159-G-A

NM_175914.4(HNF4A):c.439G>A;(p.V147I)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.

Metabolism Open
Daggag, Hinda H; Gjesing, Anette P AP; Mohammad, Alshafi A; Ă„ngquist, Lars L; Shobi, Bindu B; Antony, Suma S; Haj, Dalia D; Al Tikriti, Alia A; Buckley, Adam A; Hansen, Torben T; Barakat, Maha T MT
Publication Date: 2022-12

Variant appearance in text: HNF4A: V147I; rs142204928
PubMed Link: 36407475
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.

Stroke And Vascular Neurology
Shi, Mengmeng M; Leng, Xinyi X; Li, Ying Y; Chen, Zihan Z; Cao, Ye Y; Chung, Tiffany T; Ip, Bonaventure Ym BY; Ip, Vincent Hl VH; Soo, Yannie Oy YO; Fan, Florence Sy FS; Ma, Sze Ho SH; Ma, Karen K; Chan, Anne Y Y AYY; Au, Lisa Wc LW; Leung, Howan H; Lau, Alexander Y AY; Mok, Vincent Ct VC; Choy, Kwong Wai KW; Dong, Zirui Z; Leung, Thomas W TW
Publication Date: 2022-06

Variant appearance in text: HNF4A: V147I
PubMed Link: 34880113
Variant Present in the following documents:
  • svn-2021-001157supp001.pdf
View BVdb publication page



Analysis of protein-coding genetic variation in 60,706 humans.

Nature
Lek, Monkol M; Karczewski, Konrad J KJ; Minikel, Eric V EV; Samocha, Kaitlin E KE; Banks, Eric E; Fennell, Timothy T; O'Donnell-Luria, Anne H AH; Ware, James S JS; Hill, Andrew J AJ; Cummings, Beryl B BB; Tukiainen, Taru T; Birnbaum, Daniel P DP; Kosmicki, Jack A JA; Duncan, Laramie E LE; Estrada, Karol K; Zhao, Fengmei F; Zou, James J; Pierce-Hoffman, Emma E; Berghout, Joanne J; Cooper, David N DN; Deflaux, Nicole N; DePristo, Mark M; Do, Ron R; Flannick, Jason J; Fromer, Menachem M; Gauthier, Laura L; Goldstein, Jackie J; Gupta, Namrata N; Howrigan, Daniel D; Kiezun, Adam A; Kurki, Mitja I MI; Moonshine, Ami Levy AL; Natarajan, Pradeep P; Orozco, Lorena L; Peloso, Gina M GM; Poplin, Ryan R; Rivas, Manuel A MA; Ruano-Rubio, Valentin V; Rose, Samuel A SA; Ruderfer, Douglas M DM; Shakir, Khalid K; Stenson, Peter D PD; Stevens, Christine C; Thomas, Brett P BP; Tiao, Grace G; Tusie-Luna, Maria T MT; Weisburd, Ben B; Won, Hong-Hee HH; Yu, Dongmei D; Altshuler, David M DM; Ardissino, Diego D; Boehnke, Michael M; Danesh, John J; Donnelly, Stacey S; Elosua, Roberto R; Florez, Jose C JC; Gabriel, Stacey B SB; Getz, Gad G; Glatt, Stephen J SJ; Hultman, Christina M CM; Kathiresan, Sekar S; Laakso, Markku M; McCarroll, Steven S; McCarthy, Mark I MI; McGovern, Dermot D; McPherson, Ruth R; Neale, Benjamin M BM; Palotie, Aarno A; Purcell, Shaun M SM; Saleheen, Danish D; Scharf, Jeremiah M JM; Sklar, Pamela P; Sullivan, Patrick F PF; Tuomilehto, Jaakko J; Tsuang, Ming T MT; Watkins, Hugh C HC; Wilson, James G JG; Daly, Mark J MJ; MacArthur, Daniel G DG; ,
Publication Date: 2016-08-18

Variant appearance in text: MODY: Val147Ile
PubMed Link: 27535533
Variant Present in the following documents:
  • NIHMS798561-supplement-supp_table20.xlsx, sheet 1
View BVdb publication page



Characteristics of maturity onset diabetes of the young in a large diabetes center.

Pediatric Diabetes
Chambers, Christina C; Fouts, Alexandra A; Dong, Fran F; Colclough, Kevin K; Wang, Zhenyuan Z; Batish, Sat Dev SD; Jaremko, Malgorzata M; Ellard, Sian S; Hattersley, Andrew T AT; Klingensmith, Georgeanna G; Steck, Andrea K AK
Publication Date: 2016-08

Variant appearance in text: MODY: 439G>A
PubMed Link: 26059258
Variant Present in the following documents:
  • Main text
  • PEDI-17-360.pdf
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: HNF4A: V147I; rs142204928
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: HNF4A: V147I
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: HNF4A: V147I
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 39
View BVdb publication page