KMT2D c.10982G>A ;(p.G3661D)

Variant ID: 12-49427506-C-T

NM_003482.3(KMT2D):c.10982G>A;(p.G3661D)

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: 10982G>A; Gly3661Asp
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.

Bmc Medical Genomics
Suárez-González, Julia J; Seidel, Verónica V; Andrés-Zayas, Cristina C; Izquierdo, Elvira E; Buño, Ismael I
Publication Date: 2021-03-26

Variant appearance in text: KMT2D: 10982G>A; Gly3661Asp; rs765078837
PubMed Link: 33771153
Variant Present in the following documents:
  • 12920_2021_943_MOESM2_ESM.xls, sheet 1
View BVdb publication page