KMT2D c.2809C>T ;(p.P937S)

Variant ID: 12-49444562-G-A

NM_003482.3(KMT2D):c.2809C>T;(p.P937S)

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:

Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism

Journal Of Clinical Research In Pediatric Endocrinology
Razzaghy-Azar, Maryam M; Saeedi, Saeedeh S; Dayani, Sepideh Borhan SB; Enayati, Samaneh S; Abbasi, Farzaneh F; Hashemian, Somayyeh S; Eshraghi, Peyman P; Karimdadi, Siroos S; Tajdini, Parisa P; Vakili, Rahim R; Amoli, Mahsa M. MM; Yaghootkar, Hanieh H
Publication Date: 2022-03-03

Variant appearance in text: KMT2D: 2809C>T
PubMed Link: 34927408
Variant Present in the following documents:
  • JCRPE-14-87.pdf
View BVdb publication page