KMT2D c.10101G>C ;(p.L3367F)

Variant ID: 12-49431038-C-G

NM_003482.3(KMT2D):c.10101G>C;(p.L3367F)

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: 10101G>C; Leu3367Phe
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
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Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.

Molecular Syndromology
Zarate, Y A YA; Zhan, H H; Jones, J R JR
Publication Date: 2012-10

Variant appearance in text: rs148143899
PubMed Link: 23239960
Variant Present in the following documents:
  • Main text
View BVdb publication page