KMT2D c.2566G>T ;(p.E856*)

Variant ID: 12-49444900-C-A

NM_003482.3(KMT2D):c.2566G>T;(p.E856*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Jackson, Daniel D; Malka, Samantha S; Harding, Philippa P; Palma, Juliana J; Dunbar, Hannah H; Moosajee, Mariya M
Publication Date: 2020-09

Variant appearance in text: KMT2D: 2566G>T; Glu856*
PubMed Link: 32830442
Variant Present in the following documents:
  • Main text
  • AJMG-184-578.pdf
View BVdb publication page