KMT2D c.4550A>G ;(p.E1517G)

Variant ID: 12-49440076-T-C

NM_003482.3(KMT2D):c.4550A>G;(p.E1517G)

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:

Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

American Journal Of Medical Genetics. Part A
Boodhansingh, Kara E KE; Kandasamy, Balamurugan B; Mitteer, Lauren L; Givler, Stephanie S; De Leon, Diva D DD; Shyng, Show-Ling SL; Ganguly, Arupa A; Stanley, Charles A CA
Publication Date: 2019-11

Variant appearance in text: KMT2D: Glu1517Gly
PubMed Link: 31464105
Variant Present in the following documents:
  • Main text
  • AJMG-179-2214.pdf
View BVdb publication page