KMT2D c.3310C>G ;(p.P1104A)

Variant ID: 12-49444061-G-C

NM_003482.3(KMT2D):c.3310C>G;(p.P1104A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology
Quinn, Jessica J; Modell, Vicki V; Orange, Jordan S JS; Modell, Fred F
Publication Date: 2022-03-04

Variant appearance in text: KMT2D: P1104A
PubMed Link: 35246253
Variant Present in the following documents:
  • 13223_2022_662_MOESM2_ESM.pdf
  • 13223_2022_662_MOESM1_ESM.pdf
View BVdb publication page



Primary Immunodeficiencies in Russia: Data From the National Registry.

Frontiers In Immunology
Mukhina, Anna A AA; Kuzmenko, Natalya B NB; Rodina, Yulia A YA; Kondratenko, Irina V IV; Bologov, Andrei A AA; Latysheva, Tatiana V TV; Prodeus, Andrei P AP; Pampura, Alexander N AN; Balashov, Dmitrii N DN; Ilyina, Natalya I NI; Latysheva, Elena A EA; Deordieva, Ekaterina A EA; Shvets, Oksana A OA; Deripapa, Elena V EV; Abramova, Irina N IN; Pashenko, Olga E OE; Vahlyarskaya, Svetlana S SS; Zinovyeva, Natalya V NV; Zimin, Sergei B SB; Skorobogatova, Elena V EV; Machneva, Elena B EB; Fomina, Daria S DS; Ipatova, Maria G MG; Barycheva, Ludmila Yu LY; Khachirova, Ludmila S LS; Tuzankina, Irina A IA; Bolkov, Michail A MA; Shakhova, Natalya V NV; Kamaltynova, Elena M EM; Sibgatullina, Farida I FI; Guseva, Marina N MN; Kuznetsova, Raisa N RN; Milichkina, Anzhelika M AM; Totolian, Areg A AA; Kalinina, Natalia M NM; Goltsman, Evgenia A EA; Sulima, Ekatherina I EI; Kutlyanceva, Anastasia Yu AY; Moiseeva, Anna A AA; Khoreva, Anna L AL; Nesterenko, Zoya Z; Tymofeeva, Elena V EV; Ermakova, A A; Proligina, Dilyara D DD; Kalmetieva, Linara R LR; Davletbaieva, Gulshat A GA; Mirsayapova, Irina A IA; Richkova, Olga A OA; Kuzmicheva, Ksenia P KP; Grakhova, Maria A MA; Yudina, Natalya B NB; Orlova, Ekaterina A EA; Selezneva, Olga S OS; Piskunova, Svetlana G SG; Samofalova, Tatiana V TV; Bukina, Tatiana V TV; Pechkurova, Anna D AD; Migacheva, N N; Zhestkov, A A; Barmina, Elena V EV; Parfenova, Natalya A NA; Isakova, Svetlana N SN; Averina, Elena V EV; Sazonova, Irina V IV; Starikova, Svetlana Yu SY; Shilova, Tatiana V TV; Asekretova, Tatiana V TV; Suprun, Roman N RN; Kleshchenko, Elena I EI; Lebedev, Vladimir V VV; Demikhova, Elena V EV; Demikhov, Valerii G VG; Kalinkina, Veronica A VA; Gorenkova, Alla V AV; Duryagina, Svetlana N SN; Pavlova, Tatiana B TB; Shinkareva, Vera M VM; Smoleva, Irina V IV; Aleksandrova, Tatiana P TP; Bambaeva, Zema V ZV; Philippova, Marina A MA; Gracheva, Elena M EM; Tcyvkina, Galina I GI; Efremenkov, Alexey V AV; Mashkovskaya, D D; Yarovaya, Irina V IV; Alekseenko, Valentina A VA; Fisyun, Ivan V IV; Molokova, Galina V GV; Troitskya, Ekatherina V EV; Piatkina, Ludmila I LI; Vlasova, Elena V EV; Ukhanova, O O; Chernishova, Ekaterina G EG; Vasilieva, M M; Laba, Olga M OM; Volodina, E E; Safonova, Ekaterina V EV; Voronin, Kirill A KA; Gurkina, Maria V MV; Rumyantsev, Alexander G AG; Novichkova, Galina A GA; Shcherbina, Anna Yu AY
Publication Date: 2020

Variant appearance in text: KMT2D: P1104A
PubMed Link: 32849507
Variant Present in the following documents:
  • fimmu-11-01491.pdf
View BVdb publication page



Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.

Journal Of Clinical Immunology
Bousfiha, Aziz A; Jeddane, Leila L; Picard, Capucine C; Al-Herz, Waleed W; Ailal, Fatima F; Chatila, Talal T; Cunningham-Rundles, Charlotte C; Etzioni, Amos A; Franco, Jose Luis JL; Holland, Steven M SM; Klein, Christoph C; Morio, Tomohiro T; Ochs, Hans D HD; Oksenhendler, Eric E; Puck, Jennifer J; Torgerson, Troy R TR; Casanova, Jean-Laurent JL; Sullivan, Kathleen E KE; Tangye, Stuart G SG
Publication Date: 2020-01

Variant appearance in text: KMT2D: P1104A
PubMed Link: 32048120
Variant Present in the following documents:
  • 10875_2020_Article_758.pdf
View BVdb publication page