MYH7 c.1402T>C ;(p.F468L)

Variant ID: 14-23898169-A-G

NM_000257.2(MYH7):c.1402T>C;(p.F468L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic predisposition study of heart failure and its association with cardiomyopathy.

The Egyptian Heart Journal : (Ehj) : Official Bulletin Of The Egyptian Society Of Cardiology
Kaviarasan, Vaishak V; Mohammed, Vajagathali V; Veerabathiran, Ramakrishnan R
Publication Date: 2022-01-21

Variant appearance in text: MYH7: Phe468Leu
PubMed Link: 35061126
Variant Present in the following documents:
  • Main text
  • 43044_2022_Article_240.pdf
View BVdb publication page



Genetic predisposition study of heart failure and its association with cardiomyopathy.

The Egyptian Heart Journal : (Ehj) : Official Bulletin Of The Egyptian Society Of Cardiology
Kaviarasan, Vaishak V; Mohammed, Vajagathali V; Veerabathiran, Ramakrishnan R
Publication Date: 2022-01-21

Variant appearance in text: MYH7: Phe468Leu
PubMed Link: 35061126
Variant Present in the following documents:
  • Main text
  • 43044_2022_Article_240.pdf
View BVdb publication page



Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation
Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R
Publication Date: 2020-02-04

Variant appearance in text: MYH7: 1402T>C; F468L
PubMed Link: 31983221
Variant Present in the following documents:
  • cir-141-387-s002.xlsx, sheet 6
View BVdb publication page



Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance.

Chinese Medical Journal
Liu, Hui-Ting HT; Ji, Fang-Fang FF; Wei, Ling L; Zuo, An-Jun AJ; Gao, Yu-Xiu YX; Qi, Lin L; Jin, Bu B; Wang, Ji-Gang JG; Zhao, Peng P
Publication Date: 2019-12-05

Variant appearance in text: MYH7: Phe468Leu; rs727504338
PubMed Link: 31856055
Variant Present in the following documents:
  • Main text
  • cm9-132-2835.pdf
View BVdb publication page



Genetic testing for dilated cardiomyopathy in clinical practice.

Journal Of Cardiac Failure
Lakdawala, Neal K NK; Funke, Birgit H BH; Baxter, Samantha S; Cirino, Allison L AL; Roberts, Amy E AE; Judge, Daniel P DP; Johnson, Nicole N; Mendelsohn, Nancy J NJ; Morel, Chantal C; Care, Melanie M; Chung, Wendy K WK; Jones, Carolyn C; Psychogios, Apostolos A; Duffy, Elizabeth E; Rehm, Heidi L HL; White, Emily E; Seidman, J G JG; Seidman, Christine E CE; Ho, Carolyn Y CY
Publication Date: 2012-04

Variant appearance in text: MYH7: F468L
PubMed Link: 22464770
Variant Present in the following documents:
  • Main text
View BVdb publication page