MED23 c.1937A>G ;(p.E646G)

Variant ID: 6-131923516-T-C

NM_004830.3(MED23):c.1937A>G;(p.E646G)

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 mutation in the MED23 gene for intellectual disability: A case report and literature review.

Clinical Case Reports
Hashemi-Gorji, Feyzollah F; Fardaei, Majid M; Tabei, Seyed Mohammad Bagher SMB; Miryounesi, Mohammad M
Publication Date: 2019-02

Variant appearance in text: MED23: 1937A>G; Q646R
PubMed Link: 30847200
Variant Present in the following documents:
  • Main text
  • CCR3-7-331.pdf
View BVdb publication page