KMT2D c.6281C>T ;(p.A2094V)

Variant ID: 12-49435272-G-A

NM_003482.3(KMT2D):c.6281C>T;(p.A2094V)

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:

Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China.

Translational Andrology And Urology
Li, Minghao M; Wang, Cikui C; Liu, Peihua P; Qi, Lin L; Chen, Xiang X; Fan, Benyi B; Zhang, Xiangyang X; Zhang, Bo B; Xiao, Qiao Q; Yu, Anze A; Liu, Longfei L
Publication Date: 2020-04

Variant appearance in text: KMT2D: 6281C>T; Ala2094Val
PubMed Link: 32420132
Variant Present in the following documents:
  • Main text
  • tau-09-02-267.pdf
View BVdb publication page