MYH7 c.5423G>C ;(p.G1808A)

Variant ID: 14-23884340-C-G

NM_000257.2(MYH7):c.5423G>C;(p.G1808A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Disease mutations in striated muscle myosins.

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

Variant appearance in text: MYH7: Gly1808Ala
PubMed Link: 32651905
Variant Present in the following documents:
  • 12551_2020_721_MOESM1_ESM.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: MYH7: Gly1808Ala
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.

Circulation
Morales, Ana A; Painter, Thomas T; Li, Ran R; Siegfried, Jill D JD; Li, Duanxiang D; Norton, Nadine N; Hershberger, Ray E RE
Publication Date: 2010-05-25

Variant appearance in text: MYH7: Gly1808Ala
PubMed Link: 20458009
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

Clinical And Translational Science
Hershberger, Ray E RE; Parks, Sharie B SB; Kushner, Jessica D JD; Li, Duanxiang D; Ludwigsen, Susan S; Jakobs, Petra P; Nauman, Deirdre D; Burgess, Donna D; Partain, Julie J; Litt, Michael M
Publication Date: 2008-05

Variant appearance in text: MYH7: Gly1808Ala
PubMed Link: 19412328
Variant Present in the following documents:
  • Main text
View BVdb publication page