CP c.1472A>G ;(p.Y491C)

Variant ID: 3-148917528-T-C

NM_000096.3(CP):c.1472A>G;(p.Y491C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.

Journal Of The American Heart Association
Moya-Mendez, Mary E ME; Ogbonna, Chiagoziem C; Ezekian, Jordan E JE; Rosamilia, Michael B MB; Prange, Lyndsey L; de la Uz, Caridad C; Kim, Jeffrey J JJ; Howard, Taylor T; Garcia, John J; Nussbaum, Robert R; Truty, Rebecca R; Callis, Thomas E TE; Funk, Emily E; Heyes, Matthew M; Dear, Guy de Lisle GL; Carboni, Michael P MP; Idriss, Salim F SF; Mikati, Mohamad A MA; Landstrom, Andrew P AP
Publication Date: 2021-09-07

Variant appearance in text: CP: 1472A>G
PubMed Link: 34459253
Variant Present in the following documents:
  • JAH3-10-e019887.pdf
View BVdb publication page



ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.

Journal Of The American Heart Association
Moya-Mendez, Mary E ME; Ogbonna, Chiagoziem C; Ezekian, Jordan E JE; Rosamilia, Michael B MB; Prange, Lyndsey L; de la Uz, Caridad C; Kim, Jeffrey J JJ; Howard, Taylor T; Garcia, John J; Nussbaum, Robert R; Truty, Rebecca R; Callis, Thomas E TE; Funk, Emily E; Heyes, Matthew M; Dear, Guy de Lisle GL; Carboni, Michael P MP; Idriss, Salim F SF; Mikati, Mohamad A MA; Landstrom, Andrew P AP
Publication Date: 2021-09-07

Variant appearance in text: CP: 1472A>G
PubMed Link: 34459253
Variant Present in the following documents:
  • JAH3-10-e019887.pdf
View BVdb publication page



MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Human Molecular Genetics
Bugiardini, Enrico E; Mitchell, Alice L AL; Rosa, Ilaria Dalla ID; Horning-Do, Hue-Tran HT; Pitmann, Alan M AM; Poole, Olivia V OV; Holton, Janice L JL; Shah, Sachit S; Woodward, Cathy C; Hargreaves, Iain I; Quinlivan, Rosaline R; Amunts, Alexey A; Wiesner, Rudolf J RJ; Houlden, Henry H; Holt, Ian J IJ; Hanna, Michael G MG; Pitceathly, Robert D S RDS; Spinazzola, Antonella A
Publication Date: 2019-08-15

Variant appearance in text: CP: 1472A>G; Y491C
PubMed Link: 31039582
Variant Present in the following documents:
  • ddz093.pdf
View BVdb publication page



Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.

Plos One
Reis, Viviane Neri de Souza VN; Kitajima, João Paulo JP; Tahira, Ana Carolina AC; Feio-Dos-Santos, Ana Cecília AC; Fock, Rodrigo Ambrósio RA; Lisboa, Bianca Cristina Garcia BC; Simões, Sérgio Nery SN; Krepischi, Ana C V AC; Rosenberg, Carla C; Lourenço, Naila Cristina NC; Passos-Bueno, Maria Rita MR; Brentani, Helena H
Publication Date: 2017

Variant appearance in text: CP: Y491C; rs373531113
PubMed Link: 28118382
Variant Present in the following documents:
  • pone.0170386.s007.xlsx, sheet 1
View BVdb publication page