MYOM1 c.4468G>A ;(p.V1490I)

Variant ID: 18-3083803-C-T

NM_003803.3(MYOM1):c.4468G>A;(p.V1490I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The role of the M-band myomesin proteins in muscle integrity and cardiac disease.

Journal Of Biomedical Science
Lamber, Ekaterina P EP; Guicheney, Pascale P; Pinotsis, Nikos N
Publication Date: 2022-03-07

Variant appearance in text: MYOM1: 4468G>A; Val1490Ile
PubMed Link: 35255917
Variant Present in the following documents:
  • Main text
  • 12929_2022_Article_801.pdf
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: MYOM1: Val1490Ile
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s001.pdf
View BVdb publication page



Overview of the Muscle Cytoskeleton.

Comprehensive Physiology
Henderson, Christine A CA; Gomez, Christopher G CG; Novak, Stefanie M SM; Mi-Mi, Lei L; Gregorio, Carol C CC
Publication Date: 2017-06-18

Variant appearance in text: MYOM1: V1490I
PubMed Link: 28640448
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach.

World Journal Of Cardiology
Gu, Qingqing Q; Mendsaikhan, Uzmee U; Khuchua, Zaza Z; Jones, Byron C BC; Lu, Lu L; Towbin, Jeffrey A JA; Xu, Biao B; Purevjav, Enkhsaikhan E
Publication Date: 2017-04-26

Variant appearance in text: MYOM1: V1490I
PubMed Link: 28515850
Variant Present in the following documents:
  • Main text
  • WJC-9-320.pdf
View BVdb publication page



Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

European Heart Journal
Walsh, Roddy R; Buchan, Rachel R; Wilk, Alicja A; John, Shibu S; Felkin, Leanne E LE; Thomson, Kate L KL; Chiaw, Tang Hak TH; Loong, Calvin Chin Woon CCW; Pua, Chee Jian CJ; Raphael, Claire C; Prasad, Sanjay S; Barton, Paul J PJ; Funke, Birgit B; Watkins, Hugh H; Ware, James S JS; Cook, Stuart A SA
Publication Date: 2017-12-07

Variant appearance in text: MYOM1: 4468G>A; V1490I
PubMed Link: 28082330
Variant Present in the following documents:
  • ehw603_supplementary_tables_s1_s5_s7.xlsx, sheet 2
View BVdb publication page



The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International
Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A
Publication Date: 2015

Variant appearance in text: MYOM1: V1490I
PubMed Link: 25961035
Variant Present in the following documents:
  • Main text
  • BMRI2015-714197.pdf
View BVdb publication page