MED23 c.1380G>C ;(p.Q460H)

Variant ID: 6-131926613-C-G

NM_004830.3(MED23):c.1380G>C;(p.Q460H)

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:

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: MED23: 1380G>C; Q460H; rs752994789
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page