MYBPC3 c.301G>A ;(p.E101K)

Variant ID: 11-47372158-C-T

NM_000256.3(MYBPC3):c.301G>A;(p.E101K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal
Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY
Publication Date: 2021-05-21

Variant appearance in text: MYBPC3: 301G>A; Glu101Lys
PubMed Link: 33769460
Variant Present in the following documents:
  • ehab148_supplementary_appendix.pdf
View BVdb publication page



Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.

Circulation. Genomic And Precision Medicine
Pua, Chee Jian CJ; Tham, Nevin N; Chin, Calvin W L CWL; Walsh, Roddy R; Khor, Chiea Chuen CC; Toepfer, Christopher N CN; Repetti, Giuliana G GG; Garfinkel, Amanda C AC; Ewoldt, Jourdan F JF; Cloonan, Paige P; Chen, Christopher S CS; Lim, Shi Qi SQ; Cai, Jiashen J; Loo, Li Yang LY; Kong, Siew Ching SC; Chiang, Charleston W K CWK; Whiffin, Nicola N; de Marvao, Antonio A; Lio, Pei Min PM; Hii, An An AA; Yang, Cheng Xi CX; Le, Thu Thao TT; Bylstra, Yasmin Y; Lim, Weng Khong WK; Teo, Jing Xian JX; Padilha, Kallyandra K; Silva, Gabriela V GV; Pan, Bangfen B; Govind, Risha R; Buchan, Rachel J RJ; Barton, Paul J R PJR; Tan, Patrick P; Foo, Roger R; Yip, James W L JWL; Wong, Raymond C C RCC; Chan, Wan Xian WX; Pereira, Alexandre C AC; Tang, Hak Chiaw HC; Jamuar, Saumya Shekhar SS; Ware, James S JS; Seidman, Jonathan G JG; Seidman, Christine E CE; Cook, Stuart A SA
Publication Date: 2020-10

Variant appearance in text: MYBPC3: 301G>A; E101K
PubMed Link: 32815737
Variant Present in the following documents:
  • hcg-13-424-s001.pdf
View BVdb publication page



Ventricular Fibrillation Cardiac Arrest in African American Male with Apical Hypertrophic Cardiomyopathy.

Cureus
Volney, Giselle G; Wada, Habiba H; Tatusov, Michael M
Publication Date: 2018-09-07

Variant appearance in text: MYBPC3: Glu101Lys
PubMed Link: 30430056
Variant Present in the following documents:
  • Main text
  • cureus-0010-00000003267.pdf
View BVdb publication page



The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance.

Journal Of Cardiovascular Magnetic Resonance : Official Journal Of The Society For Cardiovascular Magnetic Resonance
Noureldin, Radwa A RA; Liu, Songtao S; Nacif, Marcelo S MS; Judge, Daniel P DP; Halushka, Marc K MK; Abraham, Theodore P TP; Ho, Carolyn C; Bluemke, David A DA
Publication Date: 2012-02-20

Variant appearance in text: MYBPC3: Glu101Lys
PubMed Link: 22348519
Variant Present in the following documents:
  • Main text
  • 1532-429X-14-17.pdf
View BVdb publication page