MYH7 c.5030G>A ;(p.R1677H)

Variant ID: 14-23884965-C-T

NM_000257.2(MYH7):c.5030G>A;(p.R1677H)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: MYH7: 5030G>A
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: MYH7: 5030G>A
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYH7: 5030G>A; R1677H
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYH7: 5030G>A; R1677H
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
Publication Date: 2021-07

Variant appearance in text: MYH7: 5030G>A; Arg1677His
PubMed Link: 34137518
Variant Present in the following documents:
  • MGG3-9-e1709-s001.xlsx, sheet 1
  • MGG3-9-e1709-s003.xlsx, sheet 2
View BVdb publication page



Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
Publication Date: 2021-07

Variant appearance in text: MYH7: 5030G>A; Arg1677His
PubMed Link: 34137518
Variant Present in the following documents:
  • MGG3-9-e1709-s003.xlsx, sheet 2
  • MGG3-9-e1709-s001.xlsx, sheet 1
View BVdb publication page



Disease mutations in striated muscle myosins.

Biophysical Reviews
Parker, Francine F; Peckham, Michelle M
Publication Date: 2020-08

Variant appearance in text: MYH7: Arg1677His
PubMed Link: 32651905
Variant Present in the following documents:
  • 12551_2020_721_MOESM1_ESM.pdf
View BVdb publication page



A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family.

Chinese Medical Journal
Liu, Xiang-Yi XY; Zhang, Ying-Shuang YS; Sun, A-Ping AP; Zhong, Yan-Feng YF; Zheng, Dan-Feng DF; Fan, Dong-Sheng DS
Publication Date: 2019-04-05

Variant appearance in text: MYH7: Arg1677His
PubMed Link: 30897599
Variant Present in the following documents:
  • Main text
  • cm9-132-856.pdf
View BVdb publication page



Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.

Data In Brief
Dejgaard, Lars A LA; Haland, Trine F TF; Lie, Oyvind H OH; Ribe, Margareth M; Bjune, Thea T; Leren, Ida Skrinde IS; Berge, Knut Erik KE; Edvardsen, Thor T; Haugaa, Kristina H KH
Publication Date: 2017-12

Variant appearance in text: MYH7: R1677H; rs730880914
PubMed Link: 28971120
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: MYH7: R1677H
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page