MYH6 c.4505G>A ;(p.R1502Q)

Variant ID: 14-23856987-C-T

NM_002471.3(MYH6):c.4505G>A;(p.R1502Q)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.

Journal Of Cardiovascular Development And Disease
Anfinson, Melissa M; Fitts, Robert H RH; Lough, John W JW; James, Jeanne M JM; Simpson, Pippa M PM; Handler, Stephanie S SS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A
Publication Date: 2022-05-03

Variant appearance in text: MYH6: R1502Q
PubMed Link: 35621855
Variant Present in the following documents:
  • jcdd-09-00144.pdf
View BVdb publication page



Post-mortem genetic investigation of cardiac disease-associated genes in sudden infant death syndrome (SIDS) cases.

International Journal Of Legal Medicine
Köffer, Jasmin J; Scheiper-Welling, Stefanie S; Verhoff, Marcel A MA; Bajanowski, Thomas T; Kauferstein, Silke S
Publication Date: 2021-01

Variant appearance in text: MYH6: 4505G>A
PubMed Link: 32789579
Variant Present in the following documents:
  • Main text
  • 414_2020_Article_2394.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: MYH6: 4505G>A; Arg1502Gln
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
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: MYH6: 4505G>A; Arg1502Gln
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MYH6: 4505G>A; Arg1502Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

Plos One
Sicko, Robert J RJ; Browne, Marilyn L ML; Rigler, Shannon L SL; Druschel, Charlotte M CM; Liu, Gang G; Fan, Ruzong R; Romitti, Paul A PA; Caggana, Michele M; Kay, Denise M DM; Brody, Lawrence C LC; Mills, James L JL
Publication Date: 2016

Variant appearance in text: MYH6: 4505G>A; Arg1502Gln; rs199936506
PubMed Link: 27788187
Variant Present in the following documents:
  • Main text
  • pone.0165174.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MYH6: R1502Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: MYH6: R1502Q
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-7.xlsx, sheet 1
View BVdb publication page



New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

European Journal Of Human Genetics : Ejhg
Andreasen, Charlotte C; Nielsen, Jonas B JB; Refsgaard, Lena L; Holst, Anders G AG; Christensen, Alex H AH; Andreasen, Laura L; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper H JH; Olesen, Morten S MS
Publication Date: 2013-09

Variant appearance in text: MYH6: R1502Q
PubMed Link: 23299917
Variant Present in the following documents:
  • ejhg2012283a.pdf
View BVdb publication page



Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

Progress In Pediatric Cardiology
Rampersaud, Evadnie E; Siegfried, Jill D JD; Norton, Nadine N; Li, Duanxiang D; Martin, Eden E; Hershberger, Ray E RE
Publication Date: 2011-01-01

Variant appearance in text: MYH6: Arg1502Gln
PubMed Link: 21483645
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

Circulation. Cardiovascular Genetics
Hershberger, Ray E RE; Norton, Nadine N; Morales, Ana A; Li, Duanxiang D; Siegfried, Jill D JD; Gonzalez-Quintana, Jorge J
Publication Date: 2010-04

Variant appearance in text: MYH6: Arg1502Gln
PubMed Link: 20215591
Variant Present in the following documents:
  • Main text
View BVdb publication page