KMT2D c.1990C>G ;(p.P664A)

Variant ID: 12-49445476-G-C

NM_003482.3(KMT2D):c.1990C>G;(p.P664A)

This variant was identified in 3 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: 1990C>G; Pro664Ala
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: KMT2D: 1990C>G; P664A; rs558509938
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page



Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports
Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC
Publication Date: 2019-07-18

Variant appearance in text: KMT2D: P664A; rs558509938
PubMed Link: 31320741
Variant Present in the following documents:
  • 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page