KMT2D c.6546dup ;(p.Y2183Lfs*19)

Variant ID: 12-49435006-A-AG

NM_003482.3(KMT2D):c.6546dup;(p.Y2183Lfs*19)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Molecular Genetics & Genomic Medicine
Brunelli, Luca L; Jenkins, Sabrina M SM; Gudgeon, James M JM; Bleyl, Steven B SB; Miller, Christine E CE; Tvrdik, Tatiana T; Dames, Shale A SA; Ostrander, Betsy B; Daboub, Josue A F JAF; Zielinski, Brandon A BA; Zinkhan, Erin K EK; Underhill, Hunter R HR; Wilson, Theodore T; Bonkowsky, Joshua L JL; Yost, Christian C CC; Botto, Lorenzo D LD; Jenkins, Justin J; Pysher, Theodore J TJ; Bayrak-Toydemir, Pinar P; Mao, Rong R
Publication Date: 2019-07

Variant appearance in text: KMT2D: 6546dupC; Tyr2183fs
PubMed Link: 31192527
Variant Present in the following documents:
  • Main text
  • MGG3-7-e00796.pdf
View BVdb publication page