KMT2D c.1736C>A ;(p.S579*)

Variant ID: 12-49445730-G-T

NM_003482.3(KMT2D):c.1736C>A;(p.S579*)

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:

Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Harms, Paul W PW; Verhaegen, Monique E ME; Hu, Kevin K; Hrycaj, Steven M SM; Chan, May P MP; Liu, Chia-Jen CJ; Grachtchouk, Marina M; Patel, Rajiv M RM; Udager, Aaron M AM; Dlugosz, Andrzej A AA
Publication Date: 2022-04

Variant appearance in text: KMT2D: S579X
PubMed Link: 34593967
Variant Present in the following documents:
  • NIHMS1739265-supplement-Supplemental_Tables.xlsx, sheet 5
View BVdb publication page