KMT2D c.10471C>G ;(p.R3491G)

Variant ID: 12-49428229-G-C

NM_003482.3(KMT2D):c.10471C>G;(p.R3491G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 10471C>G; Arg3491Gly
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.

Scientific Reports
Quaio, Caio Robledo D 'Angioli Costa CRD'C; Ceroni, Jose Ricardo Magliocco JRM; Cervato, Murilo Castro MC; Thurow, Helena Strelow HS; Moreira, Caroline Monaco CM; Trindade, Ana Carolina Gomes ACG; Furuzawa, Cintia Reys CR; de Souza, Rafaela Rogerio Floriano RRF; Perazzio, Sandro Felix SF; Dutra, Aurelio Pimenta AP; Chung, Christine Hsiaoyun CH; Kim, Chong Ae CA
Publication Date: 2022-05-11

Variant appearance in text: KMT2D: 10471C>G; Arg3491Gly; rs902898516
PubMed Link: 35546177
Variant Present in the following documents:
  • 41598_2022_11932_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page