SI c.58G>A ;(p.V20I)

Variant ID: 3-164793743-C-T

NM_001041.3(SI):c.58G>A;(p.V20I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: SI: V20I; rs775942223
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Iron metabolism imbalance at the time of listing increases overall and infectious mortality after liver transplantation.

World Journal Of Gastroenterology
Fallet, Elodie E; Rayar, Michel M; Landrieux, Amandine A; Camus, Christophe C; Houssel-Debry, Pauline P; Jezequel, Caroline C; Legros, Ludivine L; Uguen, Thomas T; Ropert-Bouchet, Martine M; Boudjema, Karim K; Guyader, Dominique D; Bardou-Jacquet, Edouard E
Publication Date: 2020-04-28

Variant appearance in text: SI: v20i
PubMed Link: 32390704
Variant Present in the following documents:
  • WJG-26-1938.pdf
View BVdb publication page



Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.

Journal Of Neurology
Adams, David D; Ando, Yukio Y; Beirão, João Melo JM; Coelho, Teresa T; Gertz, Morie A MA; Gillmore, Julian D JD; Hawkins, Philip N PN; Lousada, Isabelle I; Suhr, Ole B OB; Merlini, Giampaolo G
Publication Date: 2021-06

Variant appearance in text: SI: V20I
PubMed Link: 31907599
Variant Present in the following documents:
  • 415_2019_Article_9688.pdf
View BVdb publication page



Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging
Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B
Publication Date: 2019-06-29

Variant appearance in text: SI: 58G>A
PubMed Link: 31257224
Variant Present in the following documents:
  • aging-11-102047-s002.xlsx, sheet 11
View BVdb publication page



MicroED structures of HIV-1 Gag CTD-SP1 reveal binding interactions with the maturation inhibitor bevirimat.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Purdy, Michael D MD; Shi, Dan D; Chrustowicz, Jakub J; Hattne, Johan J; Gonen, Tamir T; Yeager, Mark M
Publication Date: 2018-12-26

Variant appearance in text: SI: V20I
PubMed Link: 30530702
Variant Present in the following documents:
  • Main text
View BVdb publication page